A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10682882



Internal ID2898445
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:134729550..134733761hg38UCSC Ensembl
Innerchr2:134729700..134733611hg38UCSC Ensembl
Outerchr2:134729400..134733911hg38UCSC Ensembl
chr2:135487120..135491331hg19UCSC Ensembl
Innerchr2:135487270..135491181hg19UCSC Ensembl
Outerchr2:135486970..135491481hg19UCSC Ensembl
Cytoband2q21.3
Allele length
AssemblyAllele length
hg384212
hg194212
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3592562
Supporting Variants
SamplesHG02570
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv10682882
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