A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2671585



Internal ID9591004
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:54713914..54861767hg38UCSC Ensembl
Outerchr19:54713543..54862137hg38UCSC Ensembl
Innerchr19:55225416..55373222hg19UCSC Ensembl
Outerchr19:55225045..55373592hg19UCSC Ensembl
Cytoband19q13.42
Allele length
AssemblyAllele length
hg38148595
hg19148548
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv667e199
Supporting Variantsessv6495385, essv5628793, essv6328555, essv5621816, essv6382589, essv5969050, essv6303087, essv6276966, essv6526492, essv5853671, essv5577865, essv5480693, essv6395764, essv5499446, essv6151065, essv6163492, essv5888098, essv6584453, essv5665363, essv5700812, essv6020715, essv5481877, essv5423676, essv5611736, essv5561960, essv6292241, essv5774822, essv5618740, essv6178617, essv6037036, essv6016249, essv6481909, essv6235868, essv6489933, essv5731128, essv5671363, essv5598392, essv6088181, essv6051298, essv6553233
SamplesNA19397, NA19399, NA19332, NA19359, NA19355, NA19393, NA19377, NA19443, NA19396, NA19379, NA19319, NA19315, NA19384, NA19404, NA19372, NA19371, NA19385, NA19317, NA19456, NA19437, NA19462, NA19347, NA19327, NA19449, NA19338, NA19469, NA19401, NA19375, NA19390, NA19473, NA19331, NA19334, NA19311, NA19360, NA19376, NA19328, NA19474, NA19316, NA19312, NA19463
Known GenesKIR2DL1, KIR2DL3, KIR2DL4, KIR2DS4, KIR3DL1, KIR3DL2, KIR3DL3, LOC100287534
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2671585
Frequency
Sample Size1151
Observed Gain0
Observed Loss40
Observed Complex0
Frequencyn/a


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