A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6932477



Internal ID9691822
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr16:56607745..56611415hg38UCSC Ensembl
Outerchr16:56641657..56645327hg19UCSC Ensembl
Cytoband16q12.2
Allele length
AssemblyAllele length
hg383671
hg193671
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2714516
Supporting Variants
SamplesSSM020
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)essv6932477
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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