A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2677491



Internal ID9596910
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:66855978..66858614hg38UCSC Ensembl
chr1:67321661..67324297hg19UCSC Ensembl
Cytoband1p31.3
Allele length
AssemblyAllele length
hg382637
hg192637
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6116618
SamplesNA19312
Known GenesWDR78
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2677491
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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