A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3647567



Internal ID7034307
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:30685982..30687062hg38UCSC Ensembl
Innerchr22:30685994..30687050hg38UCSC Ensembl
Outerchr22:30685970..30687074hg38UCSC Ensembl
chr22:31081969..31083049hg19UCSC Ensembl
Innerchr22:31081981..31083037hg19UCSC Ensembl
Outerchr22:31081957..31083061hg19UCSC Ensembl
Cytoband22q12.2
Allele length
AssemblyAllele length
hg381081
hg191081
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv16403035, essv16403032, essv16403034, essv16403031, essv16403030, essv16403027, essv16403026, essv16403037, essv16403033, essv16403029, essv16403025, essv16403039, essv16403036, essv16403038, essv16403024, essv16403023, essv16403028
SamplesHG03190, HG03479, HG03224, HG02981, NA19159, NA19445, NA19210, HG03575, NA19095, HG02464, HG02558, HG03112, HG03157, HG02052, NA19316, HG02643, HG03439
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3647567
Frequency
Sample Size2504
Observed Gain0
Observed Loss17
Observed Complex0
Frequencyn/a


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