A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6872891



Internal ID10269085
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:168316156..168316632hg38UCSC Ensembl
Outerchr6:168716836..168717312hg19UCSC Ensembl
Cytoband6q27
Allele length
AssemblyAllele length
hg38477
hg19477
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2733338, esv2733340
Supporting Variants
SamplesSSM091
Known GenesDACT2
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)essv6872891
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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