A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2718714



Internal ID9953006
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:49414509..49414986hg38UCSC Ensembl
Outerchr19:49917766..49918243hg19UCSC Ensembl
Cytoband19q13.33
Allele length
AssemblyAllele length
hg38478
hg19478
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6925397, essv6773168, essv6781944, essv6843573, essv6932993, essv6832322, essv6816347, essv6921405
SamplesSSM008, SSM065, SSM084, SSM018, SSM017, SSM081, SSM020, SSM077
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)esv2718714
Frequency
Sample Size96
Observed Gain0
Observed Loss8
Observed Complex0
Frequencyn/a


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