A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3590081



Internal ID6630368
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:24894192..24895124hg38UCSC Ensembl
Innerchr2:24894192..24895124hg38UCSC Ensembl
Outerchr2:24894140..24895287hg38UCSC Ensembl
chr2:25117061..25117993hg19UCSC Ensembl
Innerchr2:25117061..25117993hg19UCSC Ensembl
Outerchr2:25117009..25118156hg19UCSC Ensembl
Cytoband2p23.3
Allele length
AssemblyAllele length
hg38933
hg19933
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10433078, essv10433077
SamplesNA19917, NA19055
Known GenesADCY3
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3590081
Frequency
Sample Size2504
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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