A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2718531



Internal ID9952822
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:38196264..38196502hg38UCSC Ensembl
Outerchr19:38686904..38687142hg19UCSC Ensembl
Cytoband19q13.13
Allele length
AssemblyAllele length
hg38239
hg19239
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6905851, essv6902254, essv6707039
SamplesSSM013, SSM040, SSM012
Known GenesSIPA1L3
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)esv2718531
Frequency
Sample Size96
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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