A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3591069



Internal ID6978397
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:64065994..64076697hg38UCSC Ensembl
chr2:64293128..64303831hg19UCSC Ensembl
Cytoband2p14
Allele length
AssemblyAllele length
hg3810704
hg1910704
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10524780, essv10524783, essv10524784, essv10524779, essv10524777, essv10524778, essv10524781, essv10524785, essv10524782
SamplesNA12842, HG01374, NA20512, NA12751, HG01250, HG01501, HG01363, NA19770, HG00105
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3591069
Frequency
Sample Size2504
Observed Gain9
Observed Loss0
Observed Complex0
Frequencyn/a


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