A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv264e199



Internal ID20123566
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:10428991..10447181hg38UCSC Ensembl
chr12:10581590..10599780hg19UCSC Ensembl
Cytoband12p13.2
Allele length
AssemblyAllele length
hg3818191
hg1918191
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv2661703, esv2667553
SamplesHG01052, NA18523, HG00351, HG01051, NA18517, NA18947, HG00553, NA18546, HG00179, HG00140, HG00360, HG00135, HG00102, NA18978, NA18942, HG01137, NA18867, HG00362, NA18560, HG00123, NA19070, HG00278, NA18519, HG00327
Known GenesKLRC1, KLRC2
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)dgv264e199
Frequency
Sample Size1151
Observed Gain0
Observed Loss24
Observed Complex0
Frequencyn/a


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