A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10750913



Internal ID752729
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:167089398..167119073hg38UCSC Ensembl
chr2:167945908..167975583hg19UCSC Ensembl
Cytoband2q24.3
Allele length
AssemblyAllele length
hg3829676
hg1929676
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3593277
Supporting Variants
SamplesHG01242
Known GenesXIRP2
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv10750913
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer