A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2716087



Internal ID9950374
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr17:60249476..60250352hg38UCSC Ensembl
Outerchr17:58326837..58327713hg19UCSC Ensembl
Cytoband17q23.2
Allele length
AssemblyAllele length
hg38877
hg19877
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6744492, essv6776371, essv6831987, essv6941105, essv6954009, essv6665864, essv6809915, essv6778277, essv6738379
SamplesSSM022, SSM053, SSM025, SSM050, SSM066, SSM029, SSM075, SSM008, SSM081
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)esv2716087
Frequency
Sample Size96
Observed Gain0
Observed Loss9
Observed Complex0
Frequencyn/a


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