A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10753436



Internal ID3489752
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:168411071..168441358hg38UCSC Ensembl
Innerchr2:168411112..168441317hg38UCSC Ensembl
Outerchr2:168411030..168441399hg38UCSC Ensembl
chr2:169267581..169297868hg19UCSC Ensembl
Innerchr2:169267622..169297827hg19UCSC Ensembl
Outerchr2:169267540..169297909hg19UCSC Ensembl
Cytoband2q24.3
Allele length
AssemblyAllele length
hg3830288
hg1930288
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3593310
Supporting Variants
SamplesHG03100
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv10753436
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