A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2715199



Internal ID9949485
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr16:89732267..89733293hg38UCSC Ensembl
Outerchr16:89798675..89799701hg19UCSC Ensembl
Cytoband16q24.3
Allele length
AssemblyAllele length
hg381027
hg191027
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6863110, essv6867914, essv6960313, essv6766113, essv6852161, essv6858148, essv6699161, essv6809852, essv6674168, essv6867913, essv6688790
SamplesSSM086, SSM088, SSM089, SSM031, SSM035, SSM063, SSM087, SSM038, SSM075, SSM026
Known GenesZNF276
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)esv2715199
Frequency
Sample Size96
Observed Gain0
Observed Loss10
Observed Complex0
Frequencyn/a


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