A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2718856



Internal ID9953148
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19_KI270938v1_alt:108370..108770hg38UCSC Ensembl
Outerchr19:54637185..54637657hg19UCSC Ensembl
Cytoband19q13.42
Allele length
AssemblyAllele length
hg38401
hg19473
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6933023, essv6895611, essv6801363, essv6721734, essv6888820, essv6792992, essv6828772, essv6784700
SamplesSSM096, SSM044, SSM068, SSM072, SSM020, SSM080, SSM070, SSM098
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)esv2718856
Frequency
Sample Size96
Observed Gain0
Observed Loss8
Observed Complex0
Frequencyn/a


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