A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10524908



Internal ID526724
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:64143250..64296411hg38UCSC Ensembl
chr2:64370384..64523545hg19UCSC Ensembl
Cytoband2p14
Allele length
AssemblyAllele length
hg38153162
hg19153162
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3591074
Supporting Variants
SamplesNA18498
Known GenesLINC00309, PELI1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv10524908
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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