A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2746456



Internal ID9980740
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:119002887..119005007hg38UCSC Ensembl
Outerchr12:119440692..119442812hg19UCSC Ensembl
Cytoband12q24.23
Allele length
AssemblyAllele length
hg382121
hg192121
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6885131, essv6904972, essv6803560, essv6765824, essv6882383, essv6727375, essv6977331, essv6931915, essv6916191, essv6900694, essv6677893
SamplesSSM100, SSM013, SSM073, SSM029, SSM094, SSM032, SSM001, SSM020, SSM016, SSM095, SSM063
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)esv2746456
Frequency
Sample Size96
Observed Gain0
Observed Loss11
Observed Complex0
Frequencyn/a


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