A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3549618



Internal ID18404008
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:95946581..95949083hg38UCSC Ensembl
Outerchr12:95946481..95949232hg38UCSC Ensembl
Innerchr12:96340359..96342861hg19UCSC Ensembl
Outerchr12:96340259..96343010hg19UCSC Ensembl
Cytoband12q23.1
Allele length
AssemblyAllele length
hg382752
hg192752
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9748365
Samples
Known GenesAMDHD1
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceBoomsma_et_al_2014
Pubmed ID23714750
Accession Number(s)esv3549618
Frequency
Sample Size767
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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