A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5653080



Internal ID9039284
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:2966851..2968070hg38UCSC Ensembl
Outerchr12:2966694..2968223hg38UCSC Ensembl
Innerchr12:3076017..3077236hg19UCSC Ensembl
Outerchr12:3075860..3077389hg19UCSC Ensembl
Cytoband12p13.33
Allele length
AssemblyAllele length
hg381530
hg191530
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsesv2673655
Supporting Variants
SamplesHG00672
Known GenesTEAD4
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)essv5653080
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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