A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2714669



Internal ID9948953
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr16:69948664..70171770hg38UCSC Ensembl
Outerchr16:69982567..70205673hg19UCSC Ensembl
Cytoband16q22.1
Allele length
AssemblyAllele length
hg38223107
hg19223107
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6755153, essv6766092, essv6668485
SamplesSSM001, SSM030, SSM063
Known GenesCLEC18A, MIR1972-1, MIR1972-2, PDPR, PDXDC2P
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)esv2714669
Frequency
Sample Size96
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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