A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2715066



Internal ID9949351
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr16:88863197..88863352hg38UCSC Ensembl
Outerchr16:88929605..88929760hg19UCSC Ensembl
Cytoband16q24.3
Allele length
AssemblyAllele length
hg38156
hg19156
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6792490, essv6717404
SamplesSSM043, SSM070
Known GenesPABPN1L
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)esv2715066
Frequency
Sample Size96
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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