A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2674936



Internal ID9594355
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:67487216..67488269hg38UCSC Ensembl
chr4:68352934..68353987hg19UCSC Ensembl
Cytoband4q13.2
Allele length
AssemblyAllele length
hg381054
hg191054
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5529828, essv5522161, essv6285085, essv5942992, essv5959144, essv5479374, essv6305155
SamplesNA18519, NA19451, NA18516, NA18499, NA19334, NA19468, NA18511
Known GenesCENPC
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2674936
Frequency
Sample Size1151
Observed Gain0
Observed Loss7
Observed Complex0
Frequencyn/a


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