A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10403807



Internal ID405623
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:6867332..6867874hg38UCSC Ensembl
Innerchr2:6867382..6867824hg38UCSC Ensembl
Outerchr2:6867274..6867932hg38UCSC Ensembl
chr2:7007463..7008005hg19UCSC Ensembl
Innerchr2:7007513..7007955hg19UCSC Ensembl
Outerchr2:7007405..7008063hg19UCSC Ensembl
Cytoband2p25.2
Allele length
AssemblyAllele length
hg38543
hg19543
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3589734
Supporting Variants
SamplesNA19007
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv10403807
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