A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2716777



Internal ID9951066
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr18:9887246..9887689hg38UCSC Ensembl
Outerchr18:9887243..9887686hg19UCSC Ensembl
Cytoband18p11.22
Allele length
AssemblyAllele length
hg38444
hg19444
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6905628, essv6832049, essv6682311
SamplesSSM013, SSM033, SSM081
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)esv2716777
Frequency
Sample Size96
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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