A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3591066



Internal ID6631350
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:63861177..63862928hg38UCSC Ensembl
Innerchr2:63861177..63862928hg38UCSC Ensembl
Outerchr2:63861036..63863070hg38UCSC Ensembl
chr2:64088311..64090062hg19UCSC Ensembl
Innerchr2:64088311..64090062hg19UCSC Ensembl
Outerchr2:64088170..64090204hg19UCSC Ensembl
Cytoband2p15
Allele length
AssemblyAllele length
hg381752
hg191752
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10524773, essv10524770, essv10524771, essv10524772, essv10524768, essv10524774, essv10524769
SamplesHG03111, HG02497, HG01107, NA19914, HG02537, HG03139, NA18853
Known GenesUGP2
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3591066
Frequency
Sample Size2504
Observed Gain0
Observed Loss7
Observed Complex0
Frequencyn/a


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