A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3647565



Internal ID6687619
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:30642789..30644556hg38UCSC Ensembl
Innerchr22:30642826..30644520hg38UCSC Ensembl
Outerchr22:30642753..30644593hg38UCSC Ensembl
chr22:31038776..31040543hg19UCSC Ensembl
Innerchr22:31038813..31040507hg19UCSC Ensembl
Outerchr22:31038740..31040580hg19UCSC Ensembl
Cytoband22q12.2
Allele length
AssemblyAllele length
hg381768
hg191768
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv16402710
SamplesNA19704
Known GenesSLC35E4
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3647565
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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