A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2718285



Internal ID9952576
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:18131292..18131639hg38UCSC Ensembl
Outerchr19:18242102..18242449hg19UCSC Ensembl
Cytoband19p13.11
Allele length
AssemblyAllele length
hg38348
hg19348
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6898355, essv6824636, essv6909765, essv6971918, essv6852774, essv6932936, essv6905815, essv6773114
SamplesSSM065, SSM013, SSM086, SSM099, SSM020, SSM028, SSM079, SSM014
Known GenesMAST3
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)esv2718285
Frequency
Sample Size96
Observed Gain0
Observed Loss8
Observed Complex0
Frequencyn/a


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