A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2669595



Internal ID9589014
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:29875339..29936595hg38UCSC Ensembl
Outerchr6:29874968..29936965hg38UCSC Ensembl
Innerchr6:29843116..29904372hg19UCSC Ensembl
Outerchr6:29842745..29904742hg19UCSC Ensembl
Cytoband6p22.1
Allele length
AssemblyAllele length
hg3861998
hg1961998
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1087e199
Supporting Variantsessv5596920, essv5873452, essv6418921, essv6427933, essv6184301, essv6359909, essv5944426, essv6592148, essv5518715, essv6308088, essv6432829, essv5486277, essv6469732, essv6228544, essv5710432, essv5908556, essv5407911, essv5537506, essv6256087, essv6211453, essv6436040, essv5629789, essv5425575, essv5898864, essv6004254, essv6115214, essv5675490, essv6172488, essv5803678, essv6005993, essv6555659, essv6419899, essv6244704
SamplesHG00608, HG00671, HG00559, HG00566, HG00654, HG00693, HG00663, HG00501, HG00689, HG00634, HG00512, HG00705, HG00427, HG00419, HG00560, HG00596, HG00428, HG00701, HG00436, HG00584, HG00583, HG00690, HG00404, HG00531, HG00479, HG00613, HG00476, HG00418, HG00620, HG00478, HG00472, HG00628, HG00593
Known GenesHCG4B, HLA-H
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2669595
Frequency
Sample Size1151
Observed Gain0
Observed Loss33
Observed Complex0
Frequencyn/a


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