A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6779487



Internal ID9984295
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:8904552..8907196hg38UCSC Ensembl
Outerchr19:9015228..9017872hg19UCSC Ensembl
Cytoband19p13.2
Allele length
AssemblyAllele length
hg382645
hg192645
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2718147, esv2718144
Supporting Variants
SamplesSSM001
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)essv6779487
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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