A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3594226



Internal ID6981546
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:213193271..213198514hg38UCSC Ensembl
chr2:214057995..214063238hg19UCSC Ensembl
Cytoband2q34
Allele length
AssemblyAllele length
hg385244
hg195244
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10840733, essv10840738, essv10840735, essv10840736, essv10840732, essv10840739, essv10840734, essv10840726, essv10840741, essv10840730, essv10840742, essv10840729, essv10840737, essv10840727, essv10840740, essv10840731, essv10840728
SamplesNA18745, HG00351, NA19734, NA18639, HG02285, HG00355, NA21107, NA21105, NA18544, NA18747, HG02090, HG01344, NA19913, HG02497, NA18757, NA20502, NA18957
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3594226
Frequency
Sample Size2504
Observed Gain17
Observed Loss0
Observed Complex0
Frequencyn/a


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