A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3590092



Internal ID6630379
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:25404750..25408208hg38UCSC Ensembl
Innerchr2:25404773..25408185hg38UCSC Ensembl
Outerchr2:25404727..25408231hg38UCSC Ensembl
chr2:25627619..25631077hg19UCSC Ensembl
Innerchr2:25627642..25631054hg19UCSC Ensembl
Outerchr2:25627596..25631100hg19UCSC Ensembl
Cytoband2p23.3
Allele length
AssemblyAllele length
hg383459
hg193459
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10433128, essv10433127
SamplesHG02676, HG02771
Known GenesDTNB
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3590092
Frequency
Sample Size2504
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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