A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10745355



Internal ID5065165
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:163808292..163809259hg38UCSC Ensembl
Innerchr2:163808300..163809252hg38UCSC Ensembl
Outerchr2:163808285..163809267hg38UCSC Ensembl
chr2:164664802..164665769hg19UCSC Ensembl
Innerchr2:164664810..164665762hg19UCSC Ensembl
Outerchr2:164664795..164665777hg19UCSC Ensembl
Cytoband2q24.3
Allele length
AssemblyAllele length
hg38968
hg19968
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3593208
Supporting Variants
SamplesNA18537
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv10745355
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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