A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6776350



Internal ID10182198
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr17:41865316..41865761hg38UCSC Ensembl
Outerchr17:40021569..40022014hg19UCSC Ensembl
Cytoband17q21.2
Allele length
AssemblyAllele length
hg38446
hg19446
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2715942
Supporting Variants
SamplesSSM066
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)essv6776350
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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