A curated catalogue of human genomic structural variation




Variant Details

Variant: essv3563680



Internal ID6688722
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:112506370..112514785hg38UCSC Ensembl
Outerchr1:113048992..113057407hg19UCSC Ensembl
Outerchr1:112850515..112858930hg18UCSC Ensembl
Cytoband1p13.2
Allele length
AssemblyAllele length
hg388416
hg198416
hg188416
Variant TypeCNV deletion
Copy Number
Allele State
Allele OriginNot tested
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv1009068
Supporting Variants
SamplesHuRef
Known GenesWNT2B
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)essv3563680
Frequency
Sample Size3
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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