A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2663083



Internal ID9582502
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:102442182..102445241hg38UCSC Ensembl
Outerchr12:102442145..102445291hg38UCSC Ensembl
Innerchr12:102835960..102839019hg19UCSC Ensembl
Outerchr12:102835923..102839069hg19UCSC Ensembl
Cytoband12q23.2
Allele length
AssemblyAllele length
hg383147
hg193147
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6375389, essv6510703
SamplesHG00232, HG01334
Known GenesIGF1
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2663083
Frequency
Sample Size1151
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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