A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2668903



Internal ID9588322
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:47150460..47160056hg38UCSC Ensembl
chr20:45779099..45788695hg19UCSC Ensembl
Cytoband20q13.12
Allele length
AssemblyAllele length
hg389597
hg199597
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5875903, essv5846306, essv6417033, essv6121377, essv6284244, essv6112078, essv6354215, essv6414850, essv5588061, essv6043937, essv5774655, essv6097692, essv5902225, essv5583506, essv6460705, essv5575738, essv6003034, essv5905604, essv6381051, essv5747384, essv6354471, essv5451478, essv6457027, essv6481120, essv5702785, essv5495536, essv5858225, essv6052369, essv6340690, essv5628874, essv6258257, essv6478852
SamplesHG00613, HG00464, HG00657, HG00475, HG00542, NA18542, HG00651, NA18628, NA18536, NA18576, NA18622, NA18990, HG00689, NA18636, NA19066, NA18637, HG00403, NA19000, HG00524, HG00512, NA18985, NA18945, NA18619, NA18987, HG00427, HG00590, HG00654, HG00656, HG00708, HG00690, HG00702, HG00327
Known GenesEYA2
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2668903
Frequency
Sample Size1151
Observed Gain0
Observed Loss32
Observed Complex0
Frequencyn/a


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