A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2677268



Internal ID9943373
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:171465014..171465308hg38UCSC Ensembl
chr1:171434153..171434447hg19UCSC Ensembl
Cytoband1q24.3
Allele length
AssemblyAllele length
hg38295
hg19295
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6400582, essv6540115, essv6573725, essv5671198, essv5774243, essv6035092, essv5990837, essv6221293, essv5641772, essv5578880, essv6520462, essv6275292, essv6206178, essv5693017, essv5900130
SamplesNA19332, NA19373, NA19319, NA19448, NA18916, NA19457, NA19138, NA18498, NA19238, NA19172, NA19437, NA19462, NA19453, NA19444, NA19213
Known Genes
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2677268
Frequency
Sample Size1151
Observed Gain0
Observed Loss15
Observed Complex0
Frequencyn/a


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