A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6741499



Internal ID9801757
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr16:16002788..16003640hg38UCSC Ensembl
Outerchr16:16096645..16097497hg19UCSC Ensembl
Cytoband16p13.11
Allele length
AssemblyAllele length
hg38853
hg19853
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2714015, esv2714022
Supporting Variants
SamplesSSM052
Known GenesABCC1
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)essv6741499
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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