A curated catalogue of human genomic structural variation

Variant Details

Variant: esv3893249

Internal ID

18837383

Landmark

Location Information

Type	Coordinates	Assembly	Other Links
Inner	chr19:54790175..54815284	hg38	UCSC Ensembl
Outer	chr19:54790175..54832151	hg38	UCSC Ensembl
Inner	chr19:55301627..55326739	hg19	UCSC Ensembl
Outer	chr19:55301627..55343606	hg19	UCSC Ensembl
Inner	chr19:59993439..60018551	hg18	UCSC Ensembl
Outer	chr19:59993439..60035418	hg18	UCSC Ensembl

Cytoband

19q13.42

Allele length

Assembly	Allele length
hg38	41977
hg19	41980
hg18	41980

Variant Type

CNV loss

Copy Number

Allele State

Allele Origin

Probe Count

Validation Flag

Merged Status

M

Merged Variants

Supporting Variants

essv25798936, essv25786187, essv25781331, essv25801355, essv25787081, essv25786576, essv25786708, essv25785649

Samples

Known Genes

KIR2DL4, KIR3DL1, LOC100287534

Method

SNP array

Analysis

Platform

Illumina HumanHap 610

Comments

Reference

Suktitipat_et_al_2014

Pubmed ID

Accession Number(s)

Frequency

Sample Size	3017
Observed Gain	0
Observed Loss	8
Observed Complex	0
Frequency	n/a