A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3591325



Internal ID6978653
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:76554760..76697834hg38UCSC Ensembl
chr2:76781886..76924960hg19UCSC Ensembl
Cytoband2p12
Allele length
AssemblyAllele length
hg38143075
hg19143075
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10549835
SamplesHG03687
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3591325
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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