A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14604195



Internal ID4606011
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:111073845..111074480hg38UCSC Ensembl
Innerchr12:111073901..111074425hg38UCSC Ensembl
Outerchr12:111073790..111074536hg38UCSC Ensembl
chr12:111511649..111512284hg19UCSC Ensembl
Innerchr12:111511705..111512229hg19UCSC Ensembl
Outerchr12:111511594..111512340hg19UCSC Ensembl
Cytoband12q24.11
Allele length
AssemblyAllele length
hg38636
hg19636
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3630749
Supporting Variants
SamplesHG03354
Known GenesCUX2
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14604195
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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