A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6695080



Internal ID10108414
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr9:110409889..110410266hg38UCSC Ensembl
Outerchr9:113172169..113172546hg19UCSC Ensembl
Cytoband9q31.3
Allele length
AssemblyAllele length
hg38378
hg19378
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2738925, esv2738923
Supporting Variants
SamplesSSM037
Known GenesSVEP1
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)essv6695080
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