A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6682503



Internal ID9748545
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:4036091..4036508hg38UCSC Ensembl
Outerchr19:4036089..4036506hg19UCSC Ensembl
Cytoband19p13.3
Allele length
AssemblyAllele length
hg38418
hg19418
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2717985, esv2717979
Supporting Variants
SamplesSSM033
Known GenesPIAS4
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)essv6682503
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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