A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3591074



Internal ID6631358
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 State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv705e214
Supporting Variantsessv10524906, essv10524907, essv10524909, essv10524905, essv10524908
SamplesNA18502, HG03168, NA18498, HG03123, HG03451
Known GenesLINC00309, PELI1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3591074
Frequency
Sample Size2504
Observed Gain5
Observed Loss0
Observed Complex0
Frequencyn/a


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