A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2730900



Internal ID9965217
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:149006052..149006583hg38UCSC Ensembl
Outerchr5:148385615..148386146hg19UCSC Ensembl
Cytoband5q32
Allele length
AssemblyAllele length
hg38532
hg19532
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6764889, essv6754394, essv6865404, essv6670905, essv6907369
SamplesSSM058, SSM089, SSM031, SSM014, SSM063
Known GenesSH3TC2
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)esv2730900
Frequency
Sample Size96
Observed Gain0
Observed Loss5
Observed Complex0
Frequencyn/a


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