A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6887319



Internal ID9666763
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:11036844..11037112hg38UCSC Ensembl
Outerchr6:11037077..11037345hg19UCSC Ensembl
Cytoband6p24.2
Allele length
AssemblyAllele length
hg38269
hg19269
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2731589
Supporting Variants
SamplesSSM012
Known GenesELOVL2
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)essv6887319
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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