A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6674901



Internal ID9742063
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:57499425..57499626hg38UCSC Ensembl
Outerchr19:58010793..58010994hg19UCSC Ensembl
Cytoband19q13.43
Allele length
AssemblyAllele length
hg38202
hg19202
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2719078, esv2719079, esv2719071, esv2719072, esv2719076, esv2719074
Supporting Variants
SamplesSSM031
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)essv6674901
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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