A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2732612



Internal ID10316248
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:117459399..117459500hg38UCSC Ensembl
Outerchr6:117780562..117780663hg19UCSC Ensembl
Cytoband6q22.1
Allele length
AssemblyAllele length
hg38102
hg19102
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6957143, essv6671220
SamplesSSM026, SSM031
Known Genes
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)esv2732612
Frequency
Sample Size96
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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