A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2676611



Internal ID9942716
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:124239100..124239207hg38UCSC Ensembl
chr10:125927669..125927776hg19UCSC Ensembl
Cytoband10q26.13
Allele length
AssemblyAllele length
hg38108
hg19108
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5911300, essv6138167, essv5710270, essv5493866, essv6233040, essv6566186, essv6218689, essv6523897, essv5533233, essv5942443, essv6199481, essv6040539, essv6344585, essv5853265, essv5700232, essv6290651, essv6226358, essv6187991, essv6354083, essv6070756, essv5542374, essv5477347, essv5470141, essv6510884, essv6144656, essv5449137
SamplesHG00442, NA19359, HG00449, HG00663, HG00512, HG00683, NA19371, HG00705, NA18557, HG00543, NA18951, NA18544, HG00328, HG00657, HG00475, HG00436, HG00692, NA18573, HG00479, HG00473, HG00513, HG00342, NA19093, HG00472, NA18505, NA18620
Known Genes
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2676611
Frequency
Sample Size1151
Observed Gain0
Observed Loss26
Observed Complex0
Frequencyn/a


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