A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10145255



Internal ID147071
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 StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3587524
Supporting Variants
SamplesNA18959
Known GenesPOGZ, PSMB4, SELENBP1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv10145255
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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