A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3647634



Internal ID6687688
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:33795330..33797659hg38UCSC Ensembl
Innerchr22:33795347..33797642hg38UCSC Ensembl
Outerchr22:33795313..33797676hg38UCSC Ensembl
chr22:34191317..34193646hg19UCSC Ensembl
Innerchr22:34191334..34193629hg19UCSC Ensembl
Outerchr22:34191300..34193663hg19UCSC Ensembl
Cytoband22q12.3
Allele length
AssemblyAllele length
hg382330
hg192330
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv16408901
SamplesHG02568
Known GenesLARGE
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3647634
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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