A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10433036



Internal ID434852
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:24856877..24859271hg38UCSC Ensembl
Innerchr2:24856933..24859216hg38UCSC Ensembl
Outerchr2:24856822..24859327hg38UCSC Ensembl
chr2:25079746..25082140hg19UCSC Ensembl
Innerchr2:25079802..25082085hg19UCSC Ensembl
Outerchr2:25079691..25082196hg19UCSC Ensembl
Cytoband2p23.3
Allele length
AssemblyAllele length
hg382395
hg192395
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3590078
Supporting Variants
SamplesHG00671
Known GenesADCY3
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv10433036
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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