A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2665809



Internal ID9931914
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:78694381..78694456hg38UCSC Ensembl
chr1:79160066..79160141hg19UCSC Ensembl
Cytoband1p31.1
Allele length
AssemblyAllele length
hg3876
hg1976
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5481890, essv6282923, essv6142407, essv6017137, essv5877910, essv6561616, essv5874598
SamplesNA18870, NA19114, NA18853, NA19257, NA18523, NA18909, NA19147
Known Genes
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2665809
Frequency
Sample Size1151
Observed Gain0
Observed Loss7
Observed Complex0
Frequencyn/a


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