A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3587527



Internal ID6974950
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:151360740..151441151hg38UCSC Ensembl
chr1:151333216..151413627hg19UCSC Ensembl
Cytoband1q21.3
Allele length
AssemblyAllele length
hg3880412
hg1980412
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv53e214
Supporting Variantsessv10145494, essv10145495, essv10145491, essv10145497, essv10145496, essv10145493, essv10145489, essv10145488, essv10145492, essv10145490
SamplesNA18998, NA18561, HG02029, NA18959, HG03585, NA19007, HG00584, HG02494, NA18559, NA18629
Known GenesPOGZ, PSMB4, SELENBP1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3587527
Frequency
Sample Size2504
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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