A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2718927



Internal ID9953219
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:54772346..54787317hg38UCSC Ensembl
Outerchr19:55283798..55298769hg19UCSC Ensembl
Cytoband19q13.42
Allele length
AssemblyAllele length
hg3814972
hg1914972
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6832344, essv6928849, essv6950245, essv6780564
SamplesSSM024, SSM019, SSM067, SSM081
Known GenesKIR2DL1
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)esv2718927
Frequency
Sample Size96
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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