A curated catalogue of human genomic structural variation




Variant Details

Variant: essv3563940



Internal ID6688323
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 OriginNot tested
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv1002713
Supporting Variants
SamplesHuRef
Known GenesKCND3
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)essv3563940
Frequency
Sample Size3
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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