A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2714558



Internal ID10298194
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr16:58710678..58710908hg38UCSC Ensembl
Outerchr16:58744582..58744812hg19UCSC Ensembl
Cytoband16q21
Allele length
AssemblyAllele length
hg38231
hg19231
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6742653, essv6665585
SamplesSSM029, SSM007
Known GenesGOT2
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)esv2714558
Frequency
Sample Size96
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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