A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6810421



Internal ID9657582
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr16:56566527..56566967hg38UCSC Ensembl
Outerchr16:56600439..56600879hg19UCSC Ensembl
Cytoband16q12.2
Allele length
AssemblyAllele length
hg38441
hg19441
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2714513
Supporting Variants
SamplesSSM009
Known GenesMT4
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)essv6810421
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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