A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3549084



Internal ID18750160
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:39700577..39701198hg38UCSC Ensembl
Outerchr12:39700462..39701354hg38UCSC Ensembl
Innerchr12:40094379..40095000hg19UCSC Ensembl
Outerchr12:40094264..40095156hg19UCSC Ensembl
Cytoband12q12
Allele length
AssemblyAllele length
hg38893
hg19893
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9747831
Samples
Known GenesC12orf40
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceBoomsma_et_al_2014
Pubmed ID23714750
Accession Number(s)esv3549084
Frequency
Sample Size767
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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