A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6741495



Internal ID10148446
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr16:11908496..11908838hg38UCSC Ensembl
Outerchr16:12002353..12002695hg19UCSC Ensembl
Cytoband16p13.13
Allele length
AssemblyAllele length
hg38343
hg19343
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2713982
Supporting Variants
SamplesSSM052
Known GenesGSPT1
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)essv6741495
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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