A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10697370



Internal ID461782
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:144598729..144622243hg38UCSC Ensembl
Innerchr2:144599229..144621743hg38UCSC Ensembl
Outerchr2:144597729..144623243hg38UCSC Ensembl
chr2:145356296..145379810hg19UCSC Ensembl
Innerchr2:145356796..145379310hg19UCSC Ensembl
Outerchr2:145355296..145380810hg19UCSC Ensembl
Cytoband2q22.3
Allele length
AssemblyAllele length
hg3823515
hg1923515
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3592775
Supporting Variants
SamplesHG00146
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv10697370
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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