A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6912852



Internal ID9638286
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr17:60334596..60336678hg38UCSC Ensembl
Outerchr17:58411957..58414039hg19UCSC Ensembl
Cytoband17q23.2
Allele length
AssemblyAllele length
hg382083
hg192083
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2716089
Supporting Variants
SamplesSSM002
Known GenesUSP32
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)essv6912852
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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