A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2718246



Internal ID9952537
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:15873287..15873573hg38UCSC Ensembl
Outerchr19:15984097..15984383hg19UCSC Ensembl
Cytoband19p13.12
Allele length
AssemblyAllele length
hg38287
hg19287
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6950165, essv6692431, essv6788801, essv6832269, essv6707007, essv6843511, essv6717815, essv6769248, essv6784630, essv6852769, essv6812934, essv6682527
SamplesSSM036, SSM024, SSM064, SSM084, SSM069, SSM086, SSM033, SSM068, SSM081, SSM040, SSM076, SSM043
Known Genes
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)esv2718246
Frequency
Sample Size96
Observed Gain0
Observed Loss12
Observed Complex0
Frequencyn/a


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