A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3590082



Internal ID6630369
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:24906222..24908265hg38UCSC Ensembl
Innerchr2:24906272..24908215hg38UCSC Ensembl
Outerchr2:24906172..24908315hg38UCSC Ensembl
chr2:25129091..25131134hg19UCSC Ensembl
Innerchr2:25129141..25131084hg19UCSC Ensembl
Outerchr2:25129041..25131184hg19UCSC Ensembl
Cytoband2p23.3
Allele length
AssemblyAllele length
hg382044
hg192044
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10433079
SamplesNA12873
Known GenesADCY3
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3590082
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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