A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10753443



Internal ID2727947
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:168476252..168479214hg38UCSC Ensembl
Innerchr2:168476252..168479214hg38UCSC Ensembl
Outerchr2:168475951..168479524hg38UCSC Ensembl
chr2:169332762..169335724hg19UCSC Ensembl
Innerchr2:169332762..169335724hg19UCSC Ensembl
Outerchr2:169332461..169336034hg19UCSC Ensembl
Cytoband2q24.3
Allele length
AssemblyAllele length
hg382963
hg192963
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3593311
Supporting Variants
SamplesHG02399
Known GenesCERS6
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv10753443
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