A curated catalogue of human genomic structural variation




Variant Details

Variant: essv9748630



Internal ID18376190
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:120352588..120352771hg38UCSC Ensembl
Outerchr12:120352579..120352797hg38UCSC Ensembl
Innerchr12:120790391..120790574hg19UCSC Ensembl
Outerchr12:120790382..120790600hg19UCSC Ensembl
Cytoband12q24.31
Allele length
AssemblyAllele length
hg38219
hg19219
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3549883
Supporting Variants
Samples
Known GenesMSI1
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceBoomsma_et_al_2014
Pubmed ID23714750
Accession Number(s)essv9748630
Frequency
Sample Size767
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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