A curated catalogue of human genomic structural variation




Variant Details

Variant: essv3565663



Internal ID6690359
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:110207955..110212853hg38UCSC Ensembl
Outerchr1:110750577..110755475hg19UCSC Ensembl
Outerchr1:110552100..110556998hg18UCSC Ensembl
Cytoband1p13.3
Allele length
AssemblyAllele length
hg384899
hg194899
hg184899
Variant TypeCNV deletion
Copy Number
Allele State
Allele OriginNot tested
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv991777
Supporting Variants
SamplesHuRef
Known GenesKCNC4
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)essv3565663
Frequency
Sample Size3
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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