A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3628540



Internal ID6668683
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:10428819..10434234hg38UCSC Ensembl
chr12:10581418..10586833hg19UCSC Ensembl
Cytoband12p13.2
Allele length
AssemblyAllele length
hg385416
hg195416
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv14376177, essv14376168, essv14376172, essv14376178, essv14376171, essv14376184, essv14376185, essv14376175, essv14376181, essv14376173, essv14376167, essv14376174, essv14376169, essv14376182, essv14376186, essv14376170, essv14376176, essv14376187, essv14376180, essv14376179, essv14376183
SamplesHG01878, NA18528, NA19783, HG00632, HG03452, HG03311, HG03234, NA19761, HG00479, HG03667, HG00371, NA18636, HG00315, HG03871, NA19676, HG02603, HG03472, HG02491, NA20832, HG00671, HG00381
Known GenesKLRC2
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3628540
Frequency
Sample Size2504
Observed Gain21
Observed Loss0
Observed Complex0
Frequencyn/a


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