A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3588298



Internal ID6975714
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:190283592..190335662hg38UCSC Ensembl
Innerchr1:190283592..190335662hg38UCSC Ensembl
Outerchr1:190283453..190335810hg38UCSC Ensembl
chr1:190252722..190304792hg19UCSC Ensembl
Innerchr1:190252722..190304792hg19UCSC Ensembl
Outerchr1:190252583..190304940hg19UCSC Ensembl
Cytoband1q31.1
Allele length
AssemblyAllele length
hg3852071
hg1952071
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10229585, essv10229586, essv10229584
SamplesHG03577, HG03380, HG03451
Known GenesBRINP3
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3588298
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