A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6911517



Internal ID10022783
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:170255551..170256125hg38UCSC Ensembl
Outerchr6:170564639..170565213hg19UCSC Ensembl
Cytoband6q27
Allele length
AssemblyAllele length
hg38575
hg19575
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2733601, esv2733563
Supporting Variants
SamplesSSM015
Known GenesLOC154449
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)essv6911517
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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