A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2718222



Internal ID10301858
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:14880986..14892584hg38UCSC Ensembl
Outerchr19:14991798..15003396hg19UCSC Ensembl
Cytoband19p13.12
Allele length
AssemblyAllele length
hg3811599
hg1911599
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6914462, essv6877425, essv6747550, essv6780154
SamplesSSM002, SSM092, SSM001, SSM055
Known GenesOR7A17
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)esv2718222
Frequency
Sample Size96
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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