A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3587420



Internal ID6627724
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:145824369..145905171hg38UCSC Ensembl
chr1:145529907..145610744hg19UCSC Ensembl
Cytoband1q21.1
Allele length
AssemblyAllele length
hg3880803
hg1980838
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10113673, essv10113674, essv10113672
SamplesNA18993, HG02390, NA21095
Known GenesANKRD35, ITGA10, LOC100288142, MIR6736, NBPF10, NUDT17, PIAS3, POLR3C
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3587420
Frequency
Sample Size2504
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer