A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6754582



Internal ID9817182
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:70010357..70016511hg38UCSC Ensembl
Outerchr6:70720249..70726403hg19UCSC Ensembl
Cytoband6q13
Allele length
AssemblyAllele length
hg386155
hg196155
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2732254
Supporting Variants
SamplesSSM058
Known GenesCOL19A1
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)essv6754582
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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