A curated catalogue of human genomic structural variation




Variant Details

Variant: esv998962



Internal ID6734893
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:20598896..20604674hg38UCSC Ensembl
Outerchr1:20925389..20931167hg19UCSC Ensembl
Outerchr1:20797976..20803754hg18UCSC Ensembl
Cytoband1p36.12
Allele length
AssemblyAllele length
hg385779
hg195779
hg185779
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv3565384
SamplesHuRef
Known GenesCDA
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)esv998962
Frequency
Sample Size3
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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