A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3548913



Internal ID18403303
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:26358107..26358414hg38UCSC Ensembl
Outerchr12:26358040..26358446hg38UCSC Ensembl
Innerchr12:26511040..26511347hg19UCSC Ensembl
Outerchr12:26510973..26511379hg19UCSC Ensembl
Cytoband12p11.23
Allele length
AssemblyAllele length
hg38407
hg19407
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9747660
Samples
Known GenesITPR2
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceBoomsma_et_al_2014
Pubmed ID23714750
Accession Number(s)esv3548913
Frequency
Sample Size767
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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