A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2715892



Internal ID9950179
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr17:37715883..37716414hg38UCSC Ensembl
Outerchr17:36075891..36076422hg19UCSC Ensembl
Cytoband17q12
Allele length
AssemblyAllele length
hg38532
hg19532
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6843168
SamplesSSM084
Known GenesHNF1B
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)esv2715892
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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