A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2732734



Internal ID10316370
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:134396120..134396373hg38UCSC Ensembl
Outerchr6:134717258..134717511hg19UCSC Ensembl
Cytoband6q23.2
Allele length
AssemblyAllele length
hg38254
hg19254
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6896820, essv6679554, essv6701182, essv6929485, essv6770908, essv6671246, essv6855366, essv6974945, essv6715620, essv6962062, essv6684077
SamplesSSM065, SSM087, SSM039, SSM002, SSM029, SSM003, SSM031, SSM005, SSM034, SSM004, SSM043
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)esv2732734
Frequency
Sample Size96
Observed Gain0
Observed Loss11
Observed Complex0
Frequencyn/a


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