A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6796658



Internal ID9851039
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr16:88501010..88501221hg38UCSC Ensembl
Outerchr16:88567418..88567629hg19UCSC Ensembl
Cytoband16q24.2
Allele length
AssemblyAllele length
hg38212
hg19212
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2715011, esv2715012
Supporting Variants
SamplesSSM071
Known GenesZFPM1
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)essv6796658
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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