A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2732631



Internal ID10316267
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:119826181..119883427hg38UCSC Ensembl
Outerchr6:120147327..120204573hg19UCSC Ensembl
Cytoband6q22.31
Allele length
AssemblyAllele length
hg3857247
hg1957247
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6947888
SamplesSSM024
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)esv2732631
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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