A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6667496



Internal ID10084555
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:6315865..6316674hg38UCSC Ensembl
Outerchr6:6316098..6316907hg19UCSC Ensembl
Cytoband6p25.1
Allele length
AssemblyAllele length
hg38810
hg19810
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2731531
Supporting Variants
SamplesSSM030
Known GenesF13A1
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)essv6667496
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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