A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv263e199



Internal ID20123565
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:10418446..10435855hg38UCSC Ensembl
chr12:10571045..10588454hg19UCSC Ensembl
Cytoband12p13.2
Allele length
AssemblyAllele length
hg3817410
hg1917410
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv2675782, esv2658678, esv2672185
SamplesHG01060, NA18530, NA18627, NA18597, HG01069, HG00325, NA18539, NA18544, NA18566, NA18536, NA18593, NA18535, HG00565, NA18628, NA18941, NA18615, NA18610, NA18631, NA18612
Known GenesKLRC2, KLRC3
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)dgv263e199
Frequency
Sample Size1151
Observed Gain0
Observed Loss19
Observed Complex0
Frequencyn/a


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