A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6765709



Internal ID9983394
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr17:82976671..82976897hg38UCSC Ensembl
Outerchr17:80934547..80934773hg19UCSC Ensembl
Cytoband17q25.3
Allele length
AssemblyAllele length
hg38227
hg19227
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2716574, esv2716576, esv2716575
Supporting Variants
SamplesSSM001
Known GenesB3GNTL1
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)essv6765709
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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