A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3587522



Internal ID6627824
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:151237373..151267334hg38UCSC Ensembl
chr1:151209849..151239810hg19UCSC Ensembl
Cytoband1q21.3
Allele length
AssemblyAllele length
hg3829962
hg1929962
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10145242, essv10145240, essv10145241
SamplesHG01284, HG01256, HG03823
Known GenesPIP5K1A, PSMD4
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3587522
Frequency
Sample Size2504
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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