A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6690478



Internal ID10106608
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:51391512..51391819hg38UCSC Ensembl
Outerchr6:51256310..51256617hg19UCSC Ensembl
Cytoband6p12.3
Allele length
AssemblyAllele length
hg38308
hg19308
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2732067
Supporting Variants
SamplesSSM036
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)essv6690478
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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