A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6738593



Internal ID10148216
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:8897794..8898229hg38UCSC Ensembl
Outerchr19:9008470..9008905hg19UCSC Ensembl
Cytoband19p13.2
Allele length
AssemblyAllele length
hg38436
hg19436
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2718145, esv2718144
Supporting Variants
SamplesSSM050
Known GenesMUC16
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)essv6738593
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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