A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3598187



Internal ID6985323
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:151759844..151762316hg38UCSC Ensembl
Innerchr3:151759844..151762316hg38UCSC Ensembl
Outerchr3:151759540..151762597hg38UCSC Ensembl
chr3:151477632..151480104hg19UCSC Ensembl
Innerchr3:151477632..151480104hg19UCSC Ensembl
Outerchr3:151477328..151480385hg19UCSC Ensembl
Cytoband3q25.1
Allele length
AssemblyAllele length
hg382473
hg192473
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv11185951, essv11185949, essv11185950
SamplesNA18561, NA18635, NA18577
Known GenesMIR548H2
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3598187
Frequency
Sample Size2504
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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