A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3549624



Internal ID18750700
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:96226491..96226541hg38UCSC Ensembl
Outerchr12:96226489..96226542hg38UCSC Ensembl
Innerchr12:96620269..96620319hg19UCSC Ensembl
Outerchr12:96620267..96620320hg19UCSC Ensembl
Cytoband12q23.1
Allele length
AssemblyAllele length
hg3854
hg1954
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9748371
Samples
Known GenesELK3
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceBoomsma_et_al_2014
Pubmed ID23714750
Accession Number(s)esv3549624
Frequency
Sample Size767
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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