A curated catalogue of human genomic structural variation




Variant Details

Variant: essv9747672



Internal ID18375232
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:27281074..27281382hg38UCSC Ensembl
Outerchr12:27281024..27281443hg38UCSC Ensembl
Innerchr12:27434007..27434315hg19UCSC Ensembl
Outerchr12:27433957..27434376hg19UCSC Ensembl
Cytoband12p11.23
Allele length
AssemblyAllele length
hg38420
hg19420
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3548925
Supporting Variants
Samples
Known GenesSTK38L
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceBoomsma_et_al_2014
Pubmed ID23714750
Accession Number(s)essv9747672
Frequency
Sample Size767
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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