A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10656437



Internal ID512434
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:125035542..125043214hg38UCSC Ensembl
Innerchr2:125035542..125043214hg38UCSC Ensembl
Outerchr2:125035253..125043514hg38UCSC Ensembl
chr2:125793119..125800791hg19UCSC Ensembl
Innerchr2:125793119..125800791hg19UCSC Ensembl
Outerchr2:125792830..125801091hg19UCSC Ensembl
Cytoband2q14.3
Allele length
AssemblyAllele length
hg387673
hg197673
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3592296
Supporting Variants
SamplesHG00183
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv10656437
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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