A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2742762



Internal ID10296878
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:146812460..146819517hg38UCSC Ensembl
Outerchr6:147133596..147140653hg19UCSC Ensembl
Cytoband6q24.3
Allele length
AssemblyAllele length
hg387058
hg197058
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1022e201
Supporting Variantsessv6911450
SamplesSSM015
Known GenesADGB
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)esv2742762
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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