A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3587525



Internal ID6974948
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:151360256..151412906hg38UCSC Ensembl
chr1:151332732..151385382hg19UCSC Ensembl
Cytoband1q21.3
Allele length
AssemblyAllele length
hg3852651
hg1952651
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10145270, essv10145263, essv10145262, essv10145259, essv10145261, essv10145260, essv10145258, essv10145269, essv10145265, essv10145268, essv10145267, essv10145266, essv10145264
SamplesNA18998, NA18561, HG02029, NA18959, HG02153, HG03585, NA19007, HG00584, NA18537, HG02494, NA18952, NA18559, NA18629
Known GenesPOGZ, PSMB4, SELENBP1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3587525
Frequency
Sample Size2504
Observed Gain13
Observed Loss0
Observed Complex0
Frequencyn/a


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