A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2741859



Internal ID10295975
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:2468185..2468974hg38UCSC Ensembl
Outerchr6:2468419..2469208hg19UCSC Ensembl
Cytoband6p25.2
Allele length
AssemblyAllele length
hg38790
hg19790
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv983e201
Supporting Variantsessv6794076
SamplesSSM009
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)esv2741859
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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