A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2670241



Internal ID9936346
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:10568632..10570350hg38UCSC Ensembl
chr12:10721231..10722949hg19UCSC Ensembl
Cytoband12p13.2
Allele length
AssemblyAllele length
hg381719
hg191719
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5562238, essv5710506, essv6078070, essv6364631, essv5936055, essv6334182, essv6559296, essv6597288, essv6261157, essv6369177, essv5748651, essv6188016, essv6499033, essv6553125, essv5590777
SamplesHG00671, NA19332, NA19190, NA19379, NA18519, NA19901, NA19391, NA18871, NA19469, NA19834, NA18517, NA19712, NA19474, NA19093, NA19346
Known Genes
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2670241
Frequency
Sample Size1151
Observed Gain0
Observed Loss15
Observed Complex0
Frequencyn/a


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