A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6774986



Internal ID10000280
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr14:96708634..96709715hg38UCSC Ensembl
Outerchr14:97174971..97176052hg19UCSC Ensembl
Cytoband14q32.2
Allele length
AssemblyAllele length
hg381082
hg191082
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2749064
Supporting Variants
SamplesSSM008
Known Genes
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)essv6774986
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