A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10656138



Internal ID2121424
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:124920251..124920731hg38UCSC Ensembl
Innerchr2:124920279..124920704hg38UCSC Ensembl
Outerchr2:124920224..124920759hg38UCSC Ensembl
chr2:125677828..125678308hg19UCSC Ensembl
Innerchr2:125677856..125678281hg19UCSC Ensembl
Outerchr2:125677801..125678336hg19UCSC Ensembl
Cytoband2q14.3
Allele length
AssemblyAllele length
hg38481
hg19481
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3592291
Supporting Variants
SamplesHG01926
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv10656138
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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