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dbVar

Database of genomic structural variation

esv3880163

Organism: Homo sapiens

Study:estd219 (1000 Genomes Consortium Phase 3 Integrated SV)
Variant Type:copy number variation
Method Type:Sequencing
Submitted on:GRCh37

Variant Calls:3
Validation:Not tested
Clinical Assertions: No
Region Size:12,230

Publication(s):1000 Genomes Consortium Phase 3 Integrated SV

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: 184 SVs from 36 studies. See in: genome view

Remapped(Score: Perfect):66,559,719-66,573,948

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
esv3880163	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000017.11	Chr17	66,560,719 (-1000, +500)	66,572,948 (-500, +1000)
esv3880163	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000017.10	Chr17	64,556,837 (-1000, +500)	64,569,066 (-500, +1000)

Variant Call Information

Variant Call ID	Type	Sample ID	Method	Analysis	Zygosity	Other Calls in this Sample and Study
essv24270382	deletion	HG00844	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,647
essv24270383	deletion	HG02402	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,676
essv24270384	deletion	HG02410	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,705

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
essv24270382	Remapped	Perfect	NC_000017.11:g.(66 559719_66561219)_( 66572448_66573948) del	GRCh38.p12	First Pass	NC_000017.11	Chr17	66,560,719 (-1000, +500)	66,572,948 (-500, +1000)
essv24270383	Remapped	Perfect	NC_000017.11:g.(66 559719_66561219)_( 66572448_66573948) del	GRCh38.p12	First Pass	NC_000017.11	Chr17	66,560,719 (-1000, +500)	66,572,948 (-500, +1000)
essv24270384	Remapped	Perfect	NC_000017.11:g.(66 559719_66561219)_( 66572448_66573948) del	GRCh38.p12	First Pass	NC_000017.11	Chr17	66,560,719 (-1000, +500)	66,572,948 (-500, +1000)
essv24270382	Submitted genomic		NC_000017.10:g.(64 555837_64557337)_( 64568566_64570066) del	GRCh37 (hg19)		NC_000017.10	Chr17	64,556,837 (-1000, +500)	64,569,066 (-500, +1000)
essv24270383	Submitted genomic		NC_000017.10:g.(64 555837_64557337)_( 64568566_64570066) del	GRCh37 (hg19)		NC_000017.10	Chr17	64,556,837 (-1000, +500)	64,569,066 (-500, +1000)
essv24270384	Submitted genomic		NC_000017.10:g.(64 555837_64557337)_( 64568566_64570066) del	GRCh37 (hg19)		NC_000017.10	Chr17	64,556,837 (-1000, +500)	64,569,066 (-500, +1000)

No validation data were submitted for this variant

No clinical assertion data were submitted for this variant

Genotype and/or allele frequency data can be found on dbVar's FTP site.

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