A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6750363



Internal ID10158170
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:13536112..13536312hg38UCSC Ensembl
Outerchr19:13646926..13647126hg19UCSC Ensembl
Cytoband19p13.2
Allele length
AssemblyAllele length
hg38201
hg19201
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2718205, esv2718207, esv2718203
Supporting Variants
SamplesSSM056
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)essv6750363
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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