A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6896718



Internal ID9943842
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:24811671..24817720hg38UCSC Ensembl
Outerchr6:24811899..24817948hg19UCSC Ensembl
Cytoband6p22.3
Allele length
AssemblyAllele length
hg386050
hg196050
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2731716
Supporting Variants
SamplesSSM099
Known GenesFAM65B
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)essv6896718
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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