A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5791757



Internal ID8769160
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:1293096..1293545hg38UCSC Ensembl
Outerchr12:1293046..1293595hg38UCSC Ensembl
Innerchr12:1402262..1402711hg19UCSC Ensembl
Outerchr12:1402212..1402761hg19UCSC Ensembl
Cytoband12p13.33
Allele length
AssemblyAllele length
hg38550
hg19550
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2666524
Supporting Variants
SamplesHG01390
Known GenesERC1
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)essv5791757
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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