A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10479637



Internal ID481453
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:42518272..42529985hg38UCSC Ensembl
Innerchr2:42518272..42529985hg38UCSC Ensembl
Outerchr2:42517772..42530485hg38UCSC Ensembl
chr2:42745412..42757125hg19UCSC Ensembl
Innerchr2:42745412..42757125hg19UCSC Ensembl
Outerchr2:42744912..42757625hg19UCSC Ensembl
Cytoband2p21
Allele length
AssemblyAllele length
hg3811714
hg1911714
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3590505
Supporting Variants
SamplesHG02724
Known GenesMTA3
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv10479637
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