A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2669537



Internal ID9588956
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:41678420..41678748hg38UCSC Ensembl
chr1:42144091..42144419hg19UCSC Ensembl
Cytoband1p34.2
Allele length
AssemblyAllele length
hg38329
hg19329
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5863836, essv5644589, essv5788896, essv5643113
SamplesNA19108, NA18505, NA19985, NA19755
Known GenesHIVEP3
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2669537
Frequency
Sample Size1151
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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