A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2670408



Internal ID9936513
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:25030090..25032001hg38UCSC Ensembl
chr13:25604228..25606139hg19UCSC Ensembl
Cytoband13q12.13
Allele length
AssemblyAllele length
hg381912
hg191912
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5403241, essv5473231, essv5446192, essv6497068, essv6192484, essv6565761, essv5583610, essv5681252, essv5646358, essv6141772, essv5408695, essv5852379, essv6090906, essv5916228, essv5586804, essv5438169
SamplesHG00566, NA18616, NA19067, NA19660, NA19005, NA18597, NA18985, NA19082, NA19670, HG00428, HG00500, NA19788, HG00635, NA19085, NA18983, NA19758
Known Genes
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2670408
Frequency
Sample Size1151
Observed Gain0
Observed Loss16
Observed Complex0
Frequencyn/a


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