A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5660777



Internal ID9749844
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:58281519..58285029hg38UCSC Ensembl
Outerchr12:58281473..58285080hg38UCSC Ensembl
Innerchr12:58675302..58678812hg19UCSC Ensembl
Outerchr12:58675256..58678863hg19UCSC Ensembl
Cytoband12q14.1
Allele length
AssemblyAllele length
hg383608
hg193608
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsesv2674420
Supporting Variants
SamplesNA19701
Known Genes
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)essv5660777
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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