A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6846778



Internal ID9898896
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:54738709..54739190hg38UCSC Ensembl
Outerchr19:55250174..55250636hg19UCSC Ensembl
Cytoband19q13.42
Allele length
AssemblyAllele length
hg38482
hg19463
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2718913, esv2718912, esv2718911, esv2718914, esv2718915, esv2718872
Supporting Variants
SamplesSSM085
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)essv6846778
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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