A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2668465



Internal ID9587884
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:54717217..54745170hg38UCSC Ensembl
Outerchr19:54716846..54745540hg38UCSC Ensembl
Innerchr19:55228716..55256622hg19UCSC Ensembl
Outerchr19:55228345..55256992hg19UCSC Ensembl
Cytoband19q13.42
Allele length
AssemblyAllele length
hg3828695
hg1928648
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5902218, essv6028971, essv5606424, essv5788132, essv5811512, essv6254794, essv5464610, essv6342897, essv5401602, essv5732088, essv5861638, essv5957918, essv6379627, essv6375612, essv5585484, essv5760935, essv5452018, essv5780736, essv6212267, essv5987836, essv5587729, essv6065483, essv5831829, essv6014248, essv6026737, essv6277394, essv6080648, essv5642181, essv6014309, essv6042867, essv6103563, essv6522536, essv6288569, essv5621036, essv5717367, essv6138734, essv5900203, essv5872971, essv6145241, essv5924272, essv5451290, essv5790495, essv6584431, essv5403863, essv5993713, essv5926133, essv6009663, essv6053948, essv5912251, essv6018890, essv6482934, essv5487714, essv5601264, essv6246062, essv6587784, essv6579905, essv5580954, essv6212840, essv5859345, essv5721172, essv5642614, essv5407349, essv6055260, essv6272583, essv6449931, essv5647735, essv5866042, essv6036904, essv6221253, essv6071026, essv5869238, essv5799675, essv5404497, essv5792662, essv6429321, essv5468931, essv6022922, essv6285930, essv5683934, essv5947278, essv6044369
SamplesHG00537, HG00536, HG00418, HG00705, HG00437, HG00464, HG00596, HG00565, HG00449, HG00707, HG00463, HG00657, HG00614, HG00577, HG00428, HG00475, HG00542, HG00683, HG00698, HG00581, HG00404, HG00651, HG00557, HG00578, HG00699, HG00479, HG00592, HG00635, HG00543, HG00556, HG00593, HG00472, HG00421, HG00583, HG00610, HG00692, HG00628, HG00533, HG00419, HG00634, HG00403, HG00584, HG00662, HG00436, HG00653, HG00629, HG00559, HG00560, HG00672, HG00478, HG00513, HG00524, HG00512, HG00534, HG00525, HG00589, HG00427, HG00443, HG00611, HG00650, HG00663, HG00580, HG00448, HG00654, HG00530, HG00656, HG00422, HG00708, HG00693, HG00566, HG00625, HG00690, HG00442, HG00473, HG00626, HG00684, HG00476, HG00671, HG00702, HG00704, HG00531
Known GenesKIR2DL3, KIR3DL3
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2668465
Frequency
Sample Size1151
Observed Gain0
Observed Loss81
Observed Complex0
Frequencyn/a


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