A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2741635



Internal ID10295751
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:2468243..2468659hg38UCSC Ensembl
Outerchr6:2468477..2468893hg19UCSC Ensembl
Cytoband6p25.2
Allele length
AssemblyAllele length
hg38417
hg19417
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv984e201
Supporting Variantsessv6770692
SamplesSSM065
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)esv2741635
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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