A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10433197



Internal ID435013
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:25863488..25869162hg38UCSC Ensembl
Innerchr2:25863539..25869111hg38UCSC Ensembl
Outerchr2:25863437..25869213hg38UCSC Ensembl
chr2:26086357..26092031hg19UCSC Ensembl
Innerchr2:26086408..26091980hg19UCSC Ensembl
Outerchr2:26086306..26092082hg19UCSC Ensembl
Cytoband2p23.3
Allele length
AssemblyAllele length
hg385675
hg195675
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3590102
Supporting Variants
SamplesHG00117
Known GenesASXL2
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv10433197
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