A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5838266



Internal ID9806921
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:30854827..30855755hg38UCSC Ensembl
Outerchr12:30854772..30855813hg38UCSC Ensembl
Innerchr12:31007761..31008689hg19UCSC Ensembl
Outerchr12:31007706..31008747hg19UCSC Ensembl
Cytoband12p11.21
Allele length
AssemblyAllele length
hg381042
hg191042
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsesv2662542
Supporting Variants
SamplesNA19908
Known Genes
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)essv5838266
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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