A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6855479



Internal ID10253414
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:170253332..170253446hg38UCSC Ensembl
Outerchr6:170562420..170562534hg19UCSC Ensembl
Cytoband6q27
Allele length
AssemblyAllele length
hg38115
hg19115
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2733600, esv2733599, esv2733563
Supporting Variants
SamplesSSM087
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)essv6855479
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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