A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10425687



Internal ID638045
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:20715664..20716876hg38UCSC Ensembl
Innerchr2:20715681..20716859hg38UCSC Ensembl
Outerchr2:20715647..20716893hg38UCSC Ensembl
chr2:20915424..20916636hg19UCSC Ensembl
Innerchr2:20915441..20916619hg19UCSC Ensembl
Outerchr2:20915407..20916653hg19UCSC Ensembl
Cytoband2p24.1
Allele length
AssemblyAllele length
hg381213
hg191213
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3589999
Supporting Variants
SamplesHG00278
Known GenesC2orf43
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv10425687
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