A curated catalogue of human genomic structural variation




Variant Details

Variant: essv3564764



Internal ID7035864
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr17:41084678..41130921hg38UCSC Ensembl
Outerchr17:39240930..39287173hg19UCSC Ensembl
Outerchr17:36494456..36540699hg18UCSC Ensembl
Cytoband17q21.2
Allele length
AssemblyAllele length
hg3846244
hg1946244
hg1846244
Variant TypeCNV deletion
Copy Number
Allele State
Allele OriginNot tested
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv1007843
Supporting Variants
SamplesHuRef
Known GenesKRTAP4-11, KRTAP4-12, KRTAP4-7, KRTAP4-8, KRTAP4-9
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)essv3564764
Frequency
Sample Size3
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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