A curated catalogue of human genomic structural variation




Variant Details

Variant: essv3565601



Internal ID6690297
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:226635239..226639445hg38UCSC Ensembl
Outerchr1:226822940..226827146hg19UCSC Ensembl
Outerchr1:224889563..224893769hg18UCSC Ensembl
Cytoband1q42.12
Allele length
AssemblyAllele length
hg384207
hg194207
hg184207
Variant TypeCNV deletion
Copy Number
Allele State
Allele OriginNot tested
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv992736
Supporting Variants
SamplesHuRef
Known GenesITPKB
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)essv3565601
Frequency
Sample Size3
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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