A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6966725



Internal ID10072886
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr16:75061290..75061777hg38UCSC Ensembl
Outerchr16:75095188..75095675hg19UCSC Ensembl
Cytoband16q23.1
Allele length
AssemblyAllele length
hg38488
hg19488
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2714703
Supporting Variants
SamplesSSM027
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)essv6966725
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer