A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6842532



Internal ID10241760
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:131382430..131382662hg38UCSC Ensembl
Outerchr12:131866975..131867207hg19UCSC Ensembl
Cytoband12q24.33
Allele length
AssemblyAllele length
hg38233
hg19233
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2746853, esv2746835, esv2746851, esv2746850, esv2746849
Supporting Variants
SamplesSSM084
Known Genes
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)essv6842532
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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