A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10433127



Internal ID434943
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 StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3590092
Supporting Variants
SamplesHG02676
Known GenesDTNB
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv10433127
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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