A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10414260



Internal ID2637079
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:14024338..14043513hg38UCSC Ensembl
Innerchr2:14024338..14043513hg38UCSC Ensembl
Outerchr2:14023838..14044013hg38UCSC Ensembl
chr2:14164463..14183638hg19UCSC Ensembl
Innerchr2:14164463..14183638hg19UCSC Ensembl
Outerchr2:14163963..14184138hg19UCSC Ensembl
Cytoband2p24.3
Allele length
AssemblyAllele length
hg3819176
hg1919176
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3589867
Supporting Variants
SamplesHG02332
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv10414260
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