A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10823042



Internal ID4600300
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:201449208..201453102hg38UCSC Ensembl
Innerchr2:201449231..201453080hg38UCSC Ensembl
Outerchr2:201449186..201453125hg38UCSC Ensembl
chr2:202313931..202317825hg19UCSC Ensembl
Innerchr2:202313954..202317803hg19UCSC Ensembl
Outerchr2:202313909..202317848hg19UCSC Ensembl
Cytoband2q33.1
Allele length
AssemblyAllele length
hg383895
hg193895
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3593979
Supporting Variants
SamplesHG04131
Known GenesSTRADB, TRAK2
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv10823042
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