A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6957181



Internal ID10065834
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:146787653..146787772hg38UCSC Ensembl
Outerchr6:147108789..147108908hg19UCSC Ensembl
Cytoband6q24.3
Allele length
AssemblyAllele length
hg38120
hg19120
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2732834, esv2732837, esv2732836
Supporting Variants
SamplesSSM026
Known GenesADGB
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)essv6957181
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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