A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3630591



Internal ID6670727
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 State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv14591187, essv14591194, essv14591195, essv14591196, essv14591184, essv14591193, essv14591190, essv14591186, essv14591191, essv14591175, essv14591176, essv14591179, essv14591178, essv14591188, essv14591182, essv14591177, essv14591192, essv14591183, essv14591181, essv14591180, essv14591185, essv14591189
SamplesNA20809, HG00129, NA20510, HG01444, NA20881, NA20511, HG00173, HG03765, HG01348, HG03803, HG02731, HG04210, NA20875, HG01589, NA11843, HG03780, NA20769, NA20864, HG00232, HG01334, HG01695, NA20517
Known GenesIGF1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3630591
Frequency
Sample Size2504
Observed Gain0
Observed Loss22
Observed Complex0
Frequencyn/a


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