A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3590097



Internal ID6630384
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:25666628..25669554hg38UCSC Ensembl
Innerchr2:25666638..25669545hg38UCSC Ensembl
Outerchr2:25666619..25669564hg38UCSC Ensembl
chr2:25889497..25892423hg19UCSC Ensembl
Innerchr2:25889507..25892414hg19UCSC Ensembl
Outerchr2:25889488..25892433hg19UCSC Ensembl
Cytoband2p23.3
Allele length
AssemblyAllele length
hg382927
hg192927
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10433156
SamplesNA20822
Known GenesDTNB
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3590097
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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