A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2677291



Internal ID9596710
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:78649344..78655896hg38UCSC Ensembl
chr1:79115029..79121581hg19UCSC Ensembl
Cytoband1p31.1
Allele length
AssemblyAllele length
hg386553
hg196553
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6265452
SamplesNA19835
Known GenesIFI44
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2677291
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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