A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2714703



Internal ID10298339
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr16:75061241..75062031hg38UCSC Ensembl
Outerchr16:75095139..75095929hg19UCSC Ensembl
Cytoband16q23.1
Allele length
AssemblyAllele length
hg38791
hg19791
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6885462, essv6852114, essv6874087, essv6858090, essv6732718, essv6755982, essv6913180, essv6863082, essv6831868, essv6966725, essv6898049, essv6936790, essv6828297, essv6976084, essv6945609, essv6768940, essv6682112, essv6742753, essv6812642, essv6674107, essv6665612, essv6777099, essv6696168, essv6932493, essv6738277
SamplesSSM008, SSM027, SSM064, SSM087, SSM050, SSM088, SSM023, SSM058, SSM021, SSM047, SSM029, SSM031, SSM086, SSM033, SSM081, SSM020, SSM007, SSM015, SSM080, SSM037, SSM076, SSM091, SSM095, SSM004, SSM099
Known GenesZNRF1
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)esv2714703
Frequency
Sample Size96
Observed Gain0
Observed Loss25
Observed Complex0
Frequencyn/a


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