A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6801997



Internal ID9860139
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:11914266..12871758hg38UCSC Ensembl
Outerchr3:11955740..12913257hg19UCSC Ensembl
Cytoband3p25.2
Allele length
AssemblyAllele length
hg38957493
hg19957518
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2724927, esv2724925
Supporting Variants
SamplesSSM073
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)essv6801997
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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