A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2718998



Internal ID9953290
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:55862371..55862903hg38UCSC Ensembl
Outerchr19:56373737..56374269hg19UCSC Ensembl
Cytoband19q13.43
Allele length
AssemblyAllele length
hg38533
hg19533
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6842287, essv6835936, essv6961105, essv6786820
SamplesSSM026, SSM001, SSM082, SSM010
Known GenesNLRP4
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)esv2718998
Frequency
Sample Size96
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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