A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2718916



Internal ID9953208
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:54738742..54739227hg38UCSC Ensembl
Outerchr19:55250207..55250673hg19UCSC Ensembl
Cytoband19q13.42
Allele length
AssemblyAllele length
hg38486
hg19467
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6946200, essv6895616, essv6874864
SamplesSSM011, SSM023, SSM098
Known GenesKIR2DL3
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)esv2718916
Frequency
Sample Size96
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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