A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3588614



Internal ID6628905
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:204211647..204244898hg38UCSC Ensembl
chr1:204180775..204214026hg19UCSC Ensembl
Cytoband1q32.1
Allele length
AssemblyAllele length
hg3833252
hg1933252
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10266768, essv10266769
SamplesHG00406, NA20289
Known GenesGOLT1A, PLEKHA6
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3588614
Frequency
Sample Size2504
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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