A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3591525



Internal ID6978853
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:84962096..84967367hg38UCSC Ensembl
Innerchr2:84962125..84967338hg38UCSC Ensembl
Outerchr2:84962067..84967396hg38UCSC Ensembl
chr2:85189219..85194490hg19UCSC Ensembl
Innerchr2:85189248..85194461hg19UCSC Ensembl
Outerchr2:85189190..85194519hg19UCSC Ensembl
Cytoband2p11.2
Allele length
AssemblyAllele length
hg385272
hg195272
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10568566, essv10568569, essv10568571, essv10568564, essv10568570, essv10568572, essv10568573, essv10568568, essv10568567, essv10568574, essv10568565
SamplesHG02628, NA19920, NA19446, HG03380, HG03055, HG02442, HG03054, HG03563, HG02675, NA20351, HG02053
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3591525
Frequency
Sample Size2504
Observed Gain0
Observed Loss11
Observed Complex0
Frequencyn/a


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