A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2669103



Internal ID9935208
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:59128550..59131519hg38UCSC Ensembl
chr2:59355685..59358654hg19UCSC Ensembl
Cytoband2p16.1
Allele length
AssemblyAllele length
hg382970
hg192970
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv703e199
Supporting Variantsessv5494931
SamplesHG00437
Known Genes
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2669103
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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