A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2731965



Internal ID10315601
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:40134302..40134509hg38UCSC Ensembl
Outerchr6:40102041..40102248hg19UCSC Ensembl
Cytoband6p21.2
Allele length
AssemblyAllele length
hg38208
hg19208
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6896775, essv6934728, essv6697915
SamplesSSM038, SSM021, SSM099
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)esv2731965
Frequency
Sample Size96
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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