A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6817215



Internal ID10221870
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:32112251..32112429hg38UCSC Ensembl
Outerchr3:32153743..32153921hg19UCSC Ensembl
Cytoband3p22.3
Allele length
AssemblyAllele length
hg38179
hg19179
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2725106, esv2725105
Supporting Variants
SamplesSSM078
Known GenesGPD1L
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)essv6817215
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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