A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2718398



Internal ID10302034
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:28719934..28720960hg38UCSC Ensembl
Outerchr19:29210841..29211867hg19UCSC Ensembl
Cytoband19q12
Allele length
AssemblyAllele length
hg381027
hg191027
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6782043, essv6868410, essv6961002, essv6858773, essv6863608, essv6758872, essv6756329, essv6735816, essv6761663
SamplesSSM059, SSM087, SSM088, SSM058, SSM061, SSM026, SSM089, SSM001, SSM049
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)esv2718398
Frequency
Sample Size96
Observed Gain0
Observed Loss9
Observed Complex0
Frequencyn/a


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