A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2659175



Internal ID9578594
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:33680377..33680510hg38UCSC Ensembl
chr22:34076363..34076496hg19UCSC Ensembl
Cytoband22q12.3
Allele length
AssemblyAllele length
hg38134
hg19134
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5540462, essv6447821, essv6349619, essv6409327, essv6443190, essv5501436, essv6262766, essv5873303, essv5736196, essv5607645, essv6282216, essv5498589, essv5936468, essv6582773, essv6533368, essv6144921, essv5661013, essv6594249, essv5654425, essv6216440, essv5861526, essv6565910, essv6189180, essv5624428, essv6271737, essv5995046, essv6422765, essv6401027, essv5755227
SamplesHG00418, HG00328, HG00463, HG00334, HG00479, NA18566, NA18576, HG00689, HG00419, NA18547, HG00584, HG00436, HG00513, HG00524, HG00534, HG00525, HG00589, NA18606, HG00427, NA18552, NA18565, NA18602, HG00285, NA18610, HG00320, HG00324, HG00442, NA19381, HG00704
Known GenesLARGE
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2659175
Frequency
Sample Size1151
Observed Gain0
Observed Loss29
Observed Complex0
Frequencyn/a


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