A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2717991



Internal ID9952282
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:4184759..4185367hg38UCSC Ensembl
Outerchr19:4184756..4185364hg19UCSC Ensembl
Cytoband19p13.3
Allele length
AssemblyAllele length
hg38609
hg19609
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6858689, essv6816288, essv6913625, essv6801272, essv6971883, essv6745654, essv6773083, essv6696650
SamplesSSM065, SSM087, SSM028, SSM072, SSM007, SSM015, SSM037, SSM077
Known GenesANKRD24
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)esv2717991
Frequency
Sample Size96
Observed Gain0
Observed Loss8
Observed Complex0
Frequencyn/a


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