A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3590881



Internal ID6978209
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:56310375..56314025hg38UCSC Ensembl
Innerchr2:56310389..56314012hg38UCSC Ensembl
Outerchr2:56310362..56314039hg38UCSC Ensembl
chr2:56537510..56541160hg19UCSC Ensembl
Innerchr2:56537524..56541147hg19UCSC Ensembl
Outerchr2:56537497..56541174hg19UCSC Ensembl
Cytoband2p16.1
Allele length
AssemblyAllele length
hg383651
hg193651
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10513395, essv10513394
SamplesNA18498, NA20516
Known GenesCCDC85A
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3590881
Frequency
Sample Size2504
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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