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dbVar

Database of genomic structural variation

esv2751085

Organism: Homo sapiens

Study:estd55 (Pinto et al. 2007)
Variant Type:copy number variation
Method Type:SNP array
Submitted on:NCBI35 (hg17)

Variant Calls:3
Validation:Not tested
Clinical Assertions: No
Region Size:117,867

Description:Sample level SV from stringent call set
Publication(s):Pinto et al. 2007

Links to Other Resources

Overlapping Genes

Source: NCBI

Genome View
Variant Region Details and Evidence
Validation Information
Clinical Assertions
Genotype Information

Genome View

Select assembly:

Overlapping variant regions from other studies: 1446 SVs from 95 studies. See in: genome view

Remapped(Score: Perfect):31,139,486-31,257,350

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
esv2751085	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000012.12	Chr12	31,139,486	31,257,350
esv2751085	Remapped	Good	GRCh38.p12	ALT_REF_LOCI_1	Second Pass	NT_187587.1	Chr12\|NT_1 87587.1	30,278	148,144
esv2751085	Remapped	Perfect	GRCh37.p13	Primary Assembly	First Pass	NC_000012.11	Chr12	31,292,420	31,410,284
esv2751085	Submitted genomic		NCBI35 (hg17)	Primary Assembly		NC_000012.9	Chr12	31,183,687	31,301,551

Variant Call Information

Variant Call ID	Type	Sample ID	Method	Analysis	Other Calls in this Sample and Study
essv6985986	copy number gain	SPC_99	SNP array	SNP genotyping analysis	13
essv6985987	copy number gain	SPC_99	SNP array	SNP genotyping analysis	13
essv6985988	copy number gain	SPC_99	SNP array	SNP genotyping analysis	13

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
essv6985986	Remapped	Good	NT_187587.1:g.(?_3 0278)_(144767_?)du p	GRCh38.p12	Second Pass	NT_187587.1	Chr12\|NT_1 87587.1	30,278	144,767
essv6985987	Remapped	Perfect	NT_187587.1:g.(?_7 0765)_(148144_?)du p	GRCh38.p12	Second Pass	NT_187587.1	Chr12\|NT_1 87587.1	70,765	148,144
essv6985988	Remapped	Perfect	NT_187587.1:g.(?_7 0793)_(140593_?)du p	GRCh38.p12	Second Pass	NT_187587.1	Chr12\|NT_1 87587.1	70,793	140,593
essv6985986	Remapped	Perfect	NC_000012.12:g.(?_ 31139486)_(3125397 3_?)dup	GRCh38.p12	First Pass	NC_000012.12	Chr12	31,139,486	31,253,973
essv6985987	Remapped	Perfect	NC_000012.12:g.(?_ 31179971)_(3125735 0_?)dup	GRCh38.p12	First Pass	NC_000012.12	Chr12	31,179,971	31,257,350
essv6985988	Remapped	Perfect	NC_000012.12:g.(?_ 31179999)_(3124979 9_?)dup	GRCh38.p12	First Pass	NC_000012.12	Chr12	31,179,999	31,249,799
essv6985986	Remapped	Perfect	NC_000012.11:g.(?_ 31292420)_(3140690 7_?)dup	GRCh37.p13	First Pass	NC_000012.11	Chr12	31,292,420	31,406,907
essv6985987	Remapped	Perfect	NC_000012.11:g.(?_ 31332905)_(3141028 4_?)dup	GRCh37.p13	First Pass	NC_000012.11	Chr12	31,332,905	31,410,284
essv6985988	Remapped	Perfect	NC_000012.11:g.(?_ 31332933)_(3140273 3_?)dup	GRCh37.p13	First Pass	NC_000012.11	Chr12	31,332,933	31,402,733
essv6985986	Submitted genomic		NC_000012.9:g.(?_3 1183687)_(31298174 _?)dup	NCBI35 (hg17)		NC_000012.9	Chr12	31,183,687	31,298,174
essv6985987	Submitted genomic		NC_000012.9:g.(?_3 1224172)_(31301551 _?)dup	NCBI35 (hg17)		NC_000012.9	Chr12	31,224,172	31,301,551
essv6985988	Submitted genomic		NC_000012.9:g.(?_3 1224200)_(31294000 _?)dup	NCBI35 (hg17)		NC_000012.9	Chr12	31,224,200	31,294,000

No validation data were submitted for this variant

No clinical assertion data were submitted for this variant

No genotype data were submitted for this variant

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