A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6945736



Internal ID10050146
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr17:42117901..42118280hg38UCSC Ensembl
Outerchr17:40269919..40270298hg19UCSC Ensembl
Cytoband17q21.2
Allele length
AssemblyAllele length
hg38380
hg19380
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2715947
Supporting Variants
SamplesSSM023
Known GenesKAT2A
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)essv6945736
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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