A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6668551



Internal ID10083850
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr17:41184176..41184989hg38UCSC Ensembl
Outerchr17:39340428..39341241hg19UCSC Ensembl
Cytoband17q21.2
Allele length
AssemblyAllele length
hg38814
hg19814
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2715921
Supporting Variants
SamplesSSM030
Known GenesKRTAP4-1
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)essv6668551
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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