A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3647649



Internal ID7034389
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:34710482..34721260hg38UCSC Ensembl
Innerchr22:34710501..34721242hg38UCSC Ensembl
Outerchr22:34710464..34721279hg38UCSC Ensembl
chr22:35106473..35117251hg19UCSC Ensembl
Innerchr22:35106492..35117233hg19UCSC Ensembl
Outerchr22:35106455..35117270hg19UCSC Ensembl
Cytoband22q12.3
Allele length
AssemblyAllele length
hg3810779
hg1910779
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv16410941, essv16410942, essv16410939, essv16410940, essv16410936, essv16410933, essv16410937, essv16410943, essv16410938, essv16410935, essv16410934
SamplesHG03298, HG03074, NA19383, HG03055, HG02449, HG03159, HG03458, HG02941, HG01912, NA19430, HG03376
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3647649
Frequency
Sample Size2504
Observed Gain0
Observed Loss11
Observed Complex0
Frequencyn/a


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