A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2657973



Internal ID9924078
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:44535046..44536019hg38UCSC Ensembl
chr22:44930926..44931899hg19UCSC Ensembl
Cytoband22q13.31
Allele length
AssemblyAllele length
hg38974
hg19974
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6155988, essv5464128, essv6183453, essv6561845, essv6089459, essv5446270, essv5907432, essv5712969, essv5502857, essv5926478, essv6534334, essv6054756
SamplesNA19914, HG01051, NA19920, NA19107, NA19371, NA18520, NA19247, NA19437, NA19236, HG01390, NA19390, NA19474
Known Genes
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2657973
Frequency
Sample Size1151
Observed Gain0
Observed Loss12
Observed Complex0
Frequencyn/a


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