A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6677893



Internal ID9744815
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:119002887..119004964hg38UCSC Ensembl
Outerchr12:119440692..119442769hg19UCSC Ensembl
Cytoband12q24.23
Allele length
AssemblyAllele length
hg382078
hg192078
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2746456
Supporting Variants
SamplesSSM032
Known GenesSRRM4
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)essv6677893
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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