A curated catalogue of human genomic structural variation




Variant Details

Variant: essv9748439



Internal ID18722685
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:101709162..101713222hg38UCSC Ensembl
Outerchr12:101708223..101713722hg38UCSC Ensembl
Innerchr12:102102940..102107000hg19UCSC Ensembl
Outerchr12:102102001..102107500hg19UCSC Ensembl
Cytoband12q23.2
Allele length
AssemblyAllele length
hg385500
hg195500
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3549692
Supporting Variants
Samples
Known GenesCHPT1
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceBoomsma_et_al_2014
Pubmed ID23714750
Accession Number(s)essv9748439
Frequency
Sample Size767
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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