A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2745884



Internal ID10326854
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:51402880..51403457hg38UCSC Ensembl
Outerchr12:51796664..51797241hg19UCSC Ensembl
Cytoband12q13.13
Allele length
AssemblyAllele length
hg38578
hg19578
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6899554, essv6831327, essv6779480, essv6851211, essv6977223, essv6920201
SamplesSSM029, SSM017, SSM067, SSM086, SSM081, SSM012
Known GenesSLC4A8
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)esv2745884
Frequency
Sample Size96
Observed Gain0
Observed Loss6
Observed Complex0
Frequencyn/a


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