A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2667544



Internal ID9933649
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:63335581..63341331hg38UCSC Ensembl
chr1:63801252..63807002hg19UCSC Ensembl
Cytoband1p31.3
Allele length
AssemblyAllele length
hg385751
hg195751
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6277807
SamplesNA20797
Known Genes
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2667544
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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