A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2661467



Internal ID9580886
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:54770264..54861667hg38UCSC Ensembl
Outerchr19:54769893..54862037hg38UCSC Ensembl
Innerchr19:55281716..55373122hg19UCSC Ensembl
Outerchr19:55281345..55373492hg19UCSC Ensembl
Cytoband19q13.42
Allele length
AssemblyAllele length
hg3892145
hg1992148
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6487759, essv6427256, essv5906749, essv6036599, essv6039371, essv5868718, essv6218678, essv5568890, essv5734049, essv5910828, essv6468458, essv5474299, essv5848676, essv6061288, essv6268801, essv6184923, essv5542754, essv5651403, essv6410122, essv5819623, essv5593562, essv5828133, essv6345474, essv6263893, essv5888744, essv6575863, essv6581435, essv5845181, essv5829972
SamplesHG01357, HG01441, HG01440, HG01342, HG01389, HG01365, HG01492, HG01488, HG01134, HG01254, HG01550, HG01384, HG01375, HG01495, HG01124, HG01360, HG01113, HG01437, HG01494, HG01383, HG01149, HG01137, HG01390, HG01251, HG01125, HG01498, HG01462, HG01489, HG01354
Known GenesKIR2DL1, KIR2DL4, KIR2DS4, KIR3DL1, KIR3DL2, LOC100287534
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2661467
Frequency
Sample Size1151
Observed Gain0
Observed Loss29
Observed Complex0
Frequencyn/a


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