A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3590545



Internal ID6977874
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:44067129..44104168hg38UCSC Ensembl
Innerchr2:44067129..44104168hg38UCSC Ensembl
Outerchr2:44066629..44104668hg38UCSC Ensembl
chr2:44294268..44331307hg19UCSC Ensembl
Innerchr2:44294268..44331307hg19UCSC Ensembl
Outerchr2:44293768..44331807hg19UCSC Ensembl
Cytoband2p21
Allele length
AssemblyAllele length
hg3837040
hg1937040
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10482106
SamplesHG04118
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3590545
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