A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2732371



Internal ID10316007
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:84943778..84946570hg38UCSC Ensembl
Outerchr6:85653496..85656288hg19UCSC Ensembl
Cytoband6q14.3
Allele length
AssemblyAllele length
hg382793
hg192793
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6911401, essv6796131
SamplesSSM009, SSM015
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)esv2732371
Frequency
Sample Size96
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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