A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6859815



Internal ID9913669
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:10064007..11883298hg38UCSC Ensembl
Outerchr3:10105691..11924772hg19UCSC Ensembl
Cytoband3p25.2
Allele length
AssemblyAllele length
hg381819292
hg191819082
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2724892, esv2724895
Supporting Variants
SamplesSSM088
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)essv6859815
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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