A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2718166



Internal ID9952457
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:9971607..9972290hg38UCSC Ensembl
Outerchr19:10082283..10082966hg19UCSC Ensembl
Cytoband19p13.2
Allele length
AssemblyAllele length
hg38684
hg19684
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6747540, essv6820845, essv6745776, essv6843497
SamplesSSM007, SSM055, SSM084, SSM078
Known GenesCOL5A3
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)esv2718166
Frequency
Sample Size96
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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