A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2716778



Internal ID9951067
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr18:9887398..9887608hg38UCSC Ensembl
Outerchr18:9887395..9887605hg19UCSC Ensembl
Cytoband18p11.22
Allele length
AssemblyAllele length
hg38211
hg19211
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6905628, essv6682311
SamplesSSM013, SSM033
Known GenesTXNDC2
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)esv2716778
Frequency
Sample Size96
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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