A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6869103



Internal ID9918990
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:11914371..12871926hg38UCSC Ensembl
Outerchr3:11955845..12913425hg19UCSC Ensembl
Cytoband3p25.2
Allele length
AssemblyAllele length
hg38957556
hg19957581
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2724927, esv2724925
Supporting Variants
SamplesSSM090
Known GenesC3orf83, CAND2, MKRN2, PPARG, RAF1, RPL32, SNORA7A, SYN2, TIMP4, TMEM40, TSEN2
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)essv6869103
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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