A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3587524



Internal ID6974947
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:151359619..151435987hg38UCSC Ensembl
Innerchr1:151359769..151435837hg38UCSC Ensembl
Outerchr1:151359469..151436137hg38UCSC Ensembl
chr1:151332095..151408463hg19UCSC Ensembl
Innerchr1:151332245..151408313hg19UCSC Ensembl
Outerchr1:151331945..151408613hg19UCSC Ensembl
Cytoband1q21.3
Allele length
AssemblyAllele length
hg3876369
hg1976369
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv53e214
Supporting Variantsessv10145251, essv10145245, essv10145252, essv10145256, essv10145250, essv10145254, essv10145257, essv10145253, essv10145248, essv10145255, essv10145249, essv10145247, essv10145244, essv10145246
SamplesNA18998, NA18561, HG02029, NA18959, HG02153, HG03585, NA19007, HG00584, NA18537, HG02494, NA18952, NA18559, NA18629, HG00595
Known GenesPOGZ, PSMB4, SELENBP1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3587524
Frequency
Sample Size2504
Observed Gain14
Observed Loss0
Observed Complex0
Frequencyn/a


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