A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3594604



Internal ID6981924
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:230549194..230552096hg38UCSC Ensembl
Innerchr2:230549694..230551596hg38UCSC Ensembl
Outerchr2:230548194..230553096hg38UCSC Ensembl
chr2:231413909..231416811hg19UCSC Ensembl
Innerchr2:231414409..231416311hg19UCSC Ensembl
Outerchr2:231412909..231417811hg19UCSC Ensembl
Cytoband2q37.1
Allele length
AssemblyAllele length
hg382903
hg192903
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10875019
SamplesHG01953
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3594604
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