A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6976818



Internal ID9643113
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr17:41422554..41438840hg38UCSC Ensembl
Outerchr17:39578806..39595092hg19UCSC Ensembl
Cytoband17q21.2
Allele length
AssemblyAllele length
hg3816287
hg1916287
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2715932
Supporting Variants
SamplesSSM004
Known GenesKRT37, KRT38
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)essv6976818
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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