A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6864610



Internal ID9914945
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:10067344..11886857hg38UCSC Ensembl
Outerchr3:10109028..11928331hg19UCSC Ensembl
Cytoband3p25.2
Allele length
AssemblyAllele length
hg381819514
hg191819304
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2724892, esv2724895
Supporting Variants
SamplesSSM089
Known GenesATG7, ATP2B2, BRK1, FANCD2, FANCD2OS, GHRL, GHRLOS, HRH1, IRAK2, LINC00606, LINC00852, MIR885, SEC13, SLC6A1, SLC6A11, SLC6A1-AS1, TAMM41, TATDN2, VGLL4, VHL
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)essv6864610
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