A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3591322



Internal ID6978650
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:76423656..76506755hg38UCSC Ensembl
chr2:76650782..76733881hg19UCSC Ensembl
Cytoband2p12
Allele length
AssemblyAllele length
hg3883100
hg1983100
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10547440
SamplesHG03687
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3591322
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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