A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6728978



Internal ID10139561
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr17:41865353..41865785hg38UCSC Ensembl
Outerchr17:40021606..40022038hg19UCSC Ensembl
Cytoband17q21.2
Allele length
AssemblyAllele length
hg38433
hg19433
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2715942, esv2715944
Supporting Variants
SamplesSSM046
Known GenesKLHL11
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)essv6728978
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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