A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6665864



Internal ID9732741
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr17:60249859..60249946hg38UCSC Ensembl
Outerchr17:58327220..58327307hg19UCSC Ensembl
Cytoband17q23.2
Allele length
AssemblyAllele length
hg3888
hg1988
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2716088, esv2716087
Supporting Variants
SamplesSSM029
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)essv6665864
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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