A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3597439



Internal ID6972285
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:113507990..113515005hg38UCSC Ensembl
Innerchr3:113507990..113515005hg38UCSC Ensembl
Outerchr3:113507490..113515505hg38UCSC Ensembl
chr3:113226837..113233852hg19UCSC Ensembl
Innerchr3:113226837..113233852hg19UCSC Ensembl
Outerchr3:113226337..113234352hg19UCSC Ensembl
Cytoband3q13.2
Allele length
AssemblyAllele length
hg387016
hg197016
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv11106853
SamplesNA19393
Known GenesSPICE1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3597439
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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