A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14591189



Internal ID4593005
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:102442102..102445220hg38UCSC Ensembl
Innerchr12:102442102..102445220hg38UCSC Ensembl
Outerchr12:102441857..102445495hg38UCSC Ensembl
chr12:102835880..102838998hg19UCSC Ensembl
Innerchr12:102835880..102838998hg19UCSC Ensembl
Outerchr12:102835635..102839273hg19UCSC Ensembl
Cytoband12q23.2
Allele length
AssemblyAllele length
hg383119
hg193119
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3630591
Supporting Variants
SamplesNA20510
Known GenesIGF1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14591189
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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