A curated catalogue of human genomic structural variation




Variant Details

Variant: esv1002713



Internal ID6714847
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:111877707..111885825hg38UCSC Ensembl
Outerchr1:112420329..112428447hg19UCSC Ensembl
Outerchr1:112221852..112229970hg18UCSC Ensembl
Cytoband1p13.2
Allele length
AssemblyAllele length
hg388119
hg198119
hg188119
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv3563940
SamplesHuRef
Known GenesKCND3
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)esv1002713
Frequency
Sample Size3
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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