A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv261e199



Internal ID22758034
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:8741162..8746584hg38UCSC Ensembl
chr12:8893758..8899180hg19UCSC Ensembl
Cytoband12p13.31
Allele length
AssemblyAllele length
hg385423
hg195423
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv2657220, esv2666539
SamplesNA19700, NA19397, NA18924, NA19399, NA19350, NA18504, NA19396, NA19171, HG01083, NA19239, NA19375, NA19376, NA20348, NA19713, NA19093, NA18505, NA19463
Known GenesRIMKLB
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)dgv261e199
Frequency
Sample Size1151
Observed Gain0
Observed Loss17
Observed Complex0
Frequencyn/a


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