A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10433241



Internal ID435057
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:26039180..26042568hg38UCSC Ensembl
Innerchr2:26039230..26042518hg38UCSC Ensembl
Outerchr2:26039130..26042618hg38UCSC Ensembl
chr2:26262049..26265437hg19UCSC Ensembl
Innerchr2:26262099..26265387hg19UCSC Ensembl
Outerchr2:26261999..26265487hg19UCSC Ensembl
Cytoband2p23.3
Allele length
AssemblyAllele length
hg383389
hg193389
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3590106
Supporting Variants
SamplesHG01777
Known GenesRAB10
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv10433241
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