A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2664887



Internal ID9930992
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:65705312..65707348hg38UCSC Ensembl
chr1:66170995..66173031hg19UCSC Ensembl
Cytoband1p31.3
Allele length
AssemblyAllele length
hg382037
hg192037
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6531069, essv6327745
SamplesNA19374, NA19373
Known Genes
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2664887
Frequency
Sample Size1151
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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