A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2714516



Internal ID9948800
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr16:56607745..56611419hg38UCSC Ensembl
Outerchr16:56641657..56645331hg19UCSC Ensembl
Cytoband16q12.2
Allele length
AssemblyAllele length
hg383675
hg193675
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6696149, essv6932477
SamplesSSM020, SSM037
Known GenesMT2A
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)esv2714516
Frequency
Sample Size96
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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