A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2667134



Internal ID9933239
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:54788947..54803603hg38UCSC Ensembl
chr20:53405486..53420142hg19UCSC Ensembl
Cytoband20q13.2
Allele length
AssemblyAllele length
hg3814657
hg1914657
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6209221, essv6032805, essv6487229, essv5887683, essv5911042, essv6014529, essv5840734, essv5818457, essv6031065
SamplesHG01250, HG01366, HG01488, HG01498, HG01390, NA18566, NA19747, HG01491, HG01191
Known Genes
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2667134
Frequency
Sample Size1151
Observed Gain0
Observed Loss9
Observed Complex0
Frequencyn/a


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