A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3588582



Internal ID6975999
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:202432844..202446090hg38UCSC Ensembl
chr1:202401972..202415218hg19UCSC Ensembl
Cytoband1q32.1
Allele length
AssemblyAllele length
hg3813247
hg1913247
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10265019, essv10265016, essv10265018, essv10265020, essv10265017
SamplesHG02645, HG02666, HG01890, HG02613, HG02982
Known GenesPPP1R12B
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3588582
Frequency
Sample Size2504
Observed Gain5
Observed Loss0
Observed Complex0
Frequencyn/a


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