A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2656876



Internal ID9922981
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:59423014..59430602hg38UCSC Ensembl
chr4:60288732..60296320hg19UCSC Ensembl
Cytoband4q13.1
Allele length
AssemblyAllele length
hg387589
hg197589
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv946e199
Supporting Variantsessv6372215, essv5488628, essv5947845, essv5688646, essv5714086, essv5868565, essv5418731, essv6366691, essv6194480, essv5924828, essv6020344, essv6395238, essv6469501, essv5465688, essv5854112, essv5760324, essv5742362, essv6545840, essv5461669, essv5934752, essv6133620, essv6265706, essv6350171, essv5907653, essv5743085, essv6124028, essv6344322, essv5948472, essv5897744, essv5888490, essv6360894, essv5845292, essv5747218, essv5578365, essv5890539, essv5948177
SamplesHG01441, NA18545, NA12004, NA18606, NA19190, NA18870, NA18526, NA18563, HG00501, NA19678, HG01488, HG00702, HG00689, NA19313, NA19384, NA19404, HG00512, NA19137, NA19901, HG00531, NA18499, NA18523, NA19395, NA18953, NA18950, NA19435, NA19380, HG01137, HG01342, NA18631, HG00656, NA19716, HG01377, NA12006, NA19153, NA19676
Known Genes
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2656876
Frequency
Sample Size1151
Observed Gain0
Observed Loss36
Observed Complex0
Frequencyn/a


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