A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2715834



Internal ID10299470
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr17:32276168..32277403hg38UCSC Ensembl
Outerchr17:30603187..30604422hg19UCSC Ensembl
Cytoband17q11.2
Allele length
AssemblyAllele length
hg381236
hg191236
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6763803, essv6858243, essv6777966, essv6852259
SamplesSSM008, SSM087, SSM062, SSM086
Known GenesRHBDL3
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)esv2715834
Frequency
Sample Size96
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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