A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2716089



Internal ID9950376
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr17:60334525..60336667hg38UCSC Ensembl
Outerchr17:58411886..58414028hg19UCSC Ensembl
Cytoband17q23.2
Allele length
AssemblyAllele length
hg382143
hg192143
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6769050, essv6668564, essv6912852, essv6843194, essv6871249, essv6976995, essv6839710, essv6763153
SamplesSSM064, SSM002, SSM084, SSM090, SSM001, SSM010, SSM004, SSM030
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)esv2716089
Frequency
Sample Size96
Observed Gain0
Observed Loss8
Observed Complex0
Frequencyn/a


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