A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2668549



Internal ID9587968
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:54833562..54834414hg38UCSC Ensembl
Outerchr19:54833523..54834464hg38UCSC Ensembl
Innerchr19:55345017..55345869hg19UCSC Ensembl
Outerchr19:55344978..55345919hg19UCSC Ensembl
Cytoband19q13.42
Allele length
AssemblyAllele length
hg38942
hg19942
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6180075, essv5978857, essv6449508, essv5670300, essv6197532, essv6305762, essv5976485, essv6401268, essv5447516, essv5509406, essv5940444, essv6220063, essv6390879, essv5782275, essv5496466, essv5489547, essv6574382, essv5800664, essv5424363, essv6238383, essv5424919, essv5919335, essv5847627, essv5604440, essv6126523, essv6296186, essv5853318, essv6407652, essv6055773, essv5658160, essv5541801, essv5809263, essv6551386, essv5868327, essv5667816, essv5847592, essv5875945, essv6107207, essv6429735, essv5517159, essv5706155, essv6016481, essv5983647, essv5667213, essv5990558, essv6389656, essv5695627, essv5708179, essv6247987, essv6234613, essv5540517, essv6544918, essv5889834, essv5549093, essv6175308, essv6570985, essv6531653, essv5483563, essv5472297, essv6359468, essv6203370, essv6419137, essv5617984, essv5735372, essv6485406, essv6025925, essv6063844, essv5931740, essv6091021, essv5584429
SamplesNA19445, NA19436, NA12750, NA18520, NA19904, NA20278, NA19819, NA18933, HG01055, NA19430, NA19359, HG00614, NA19334, NA19453, NA19451, NA19449, HG00553, NA19461, HG00701, HG01461, HG01134, NA19236, NA20322, NA12341, HG01171, NA19438, HG00554, HG01107, NA19463, NA19914, NA19428, NA19383, HG00259, NA19471, HG01495, NA19908, NA19075, NA20282, NA20336, NA19316, NA19190, NA19213, NA19377, NA19395, NA19129, NA19375, NA19393, NA19716, HG00560, NA19002, NA19731, NA18941, NA19347, HG01070, NA19462, NA20276, NA19116, NA19818, NA18548, NA18917, NA19399, NA19470, NA19315, HG00566, NA11829, NA19130, NA19346, NA19448, NA18519, HG00312
Known GenesKIR2DS4
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2668549
Frequency
Sample Size1151
Observed Gain0
Observed Loss70
Observed Complex0
Frequencyn/a


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