A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2667553



Internal ID9586972
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:10431747..10447181hg38UCSC Ensembl
chr12:10584346..10599780hg19UCSC Ensembl
Cytoband12p13.2
Allele length
AssemblyAllele length
hg3815435
hg1915435
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv264e199
Supporting Variantsessv6385174, essv6094063, essv6138033, essv6404821, essv6476006, essv6355013, essv6195562, essv6098748, essv5944433, essv5464337, essv6302208, essv5515157, essv6192706, essv6120984, essv5567719, essv5977439, essv6247394
SamplesNA18523, HG00351, NA18517, NA18947, NA18546, HG00140, HG00135, HG00102, NA18978, NA18942, NA18867, HG00362, NA18560, HG00123, NA19070, HG00278, NA18519
Known GenesKLRC1, KLRC2
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2667553
Frequency
Sample Size1151
Observed Gain0
Observed Loss17
Observed Complex0
Frequencyn/a


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