A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6843172



Internal ID9895649
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr17:41167755..41168142hg38UCSC Ensembl
Outerchr17:39324007..39324394hg19UCSC Ensembl
Cytoband17q21.2
Allele length
AssemblyAllele length
hg38388
hg19388
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2715919
Supporting Variants
SamplesSSM084
Known GenesKRTAP4-3
MethodSequencing
AnalysisBreakdancer:4 times standard deviation,VariationHunter:4 times standard deviation and at least 3 supportting reads
PlatformIllumina HiSeq 2000
Comments
ReferenceWong_et_al_2012b
Pubmed ID23290073
Accession Number(s)essv6843172
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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