A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6696188



Internal ID9761244
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr16:87975809..87975932hg38UCSC Ensembl
Outerchr16:88009415..88009538hg19UCSC Ensembl
Cytoband16q24.2
Allele length
AssemblyAllele length
hg38124
hg19124
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2714947, esv2714946
Supporting Variants
SamplesSSM037
Known GenesBANP
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)essv6696188
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