A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6816347



Internal ID9871508
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:49414561..49414937hg38UCSC Ensembl
Outerchr19:49917818..49918194hg19UCSC Ensembl
Cytoband19q13.33
Allele length
AssemblyAllele length
hg38377
hg19377
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2718714
Supporting Variants
SamplesSSM077
Known GenesCCDC155
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)essv6816347
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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