A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5792401



Internal ID8769804
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:61647741..61653848hg38UCSC Ensembl
chr1:62113413..62119520hg19UCSC Ensembl
Cytoband1p31.3
Allele length
AssemblyAllele length
hg386108
hg196108
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsesv2667857
Supporting Variants
SamplesHG00119
Known Genes
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)essv5792401
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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