A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10670072



Internal ID5359558
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:130006472..130032161hg38UCSC Ensembl
Innerchr2:130006472..130032161hg38UCSC Ensembl
Outerchr2:130005972..130032661hg38UCSC Ensembl
chr2:130764045..130789734hg19UCSC Ensembl
Innerchr2:130764045..130789734hg19UCSC Ensembl
Outerchr2:130763545..130790234hg19UCSC Ensembl
Cytoband2q21.1
Allele length
AssemblyAllele length
hg3825690
hg1925690
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3592435
Supporting Variants
SamplesNA18908
Known GenesFAR2P1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv10670072
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