A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2732708



Internal ID9967028
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:131482076..131482399hg38UCSC Ensembl
Outerchr6:131803216..131803539hg19UCSC Ensembl
Cytoband6q23.2
Allele length
AssemblyAllele length
hg38324
hg19324
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6760113, essv6765085, essv6969459, essv6715617
SamplesSSM028, SSM061, SSM043, SSM063
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)esv2732708
Frequency
Sample Size96
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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