A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2660512



Internal ID9926617
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:40109765..40121694hg38UCSC Ensembl
chr1:40575437..40587366hg19UCSC Ensembl
Cytoband1p34.2
Allele length
AssemblyAllele length
hg3811930
hg1911930
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6360549, essv6473183, essv5747526, essv5891188
SamplesNA19914, NA19107, NA19446, NA20792
Known Genes
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2660512
Frequency
Sample Size1151
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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