A curated catalogue of human genomic structural variation




Variant Details

Variant: essv3564712



Internal ID7035812
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr17:41227255..41238825hg38UCSC Ensembl
Outerchr17:39383507..39395077hg19UCSC Ensembl
Outerchr17:36637033..36648603hg18UCSC Ensembl
Cytoband17q21.2
Allele length
AssemblyAllele length
hg3811571
hg1911571
hg1811571
Variant TypeCNV deletion
Copy Number
Allele State
Allele OriginNot tested
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv987726
Supporting Variants
SamplesHuRef
Known GenesKRTAP9-2, KRTAP9-3, KRTAP9-8
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)essv3564712
Frequency
Sample Size3
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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