A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10470856



Internal ID5287686
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:39526401..39528238hg38UCSC Ensembl
Innerchr2:39526430..39528209hg38UCSC Ensembl
Outerchr2:39526372..39528267hg38UCSC Ensembl
chr2:39753542..39755379hg19UCSC Ensembl
Innerchr2:39753571..39755350hg19UCSC Ensembl
Outerchr2:39753513..39755408hg19UCSC Ensembl
Cytoband2p22.1
Allele length
AssemblyAllele length
hg381838
hg191838
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3590435
Supporting Variants
SamplesNA18740
Known GenesLOC728730
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv10470856
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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