A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10437169



Internal ID925573
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:28419719..28422956hg38UCSC Ensembl
Innerchr2:28419768..28422907hg38UCSC Ensembl
Outerchr2:28419670..28423005hg38UCSC Ensembl
chr2:28642586..28645823hg19UCSC Ensembl
Innerchr2:28642635..28645774hg19UCSC Ensembl
Outerchr2:28642537..28645872hg19UCSC Ensembl
Cytoband2p23.2
Allele length
AssemblyAllele length
hg383238
hg193238
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3590159
Supporting Variants
SamplesHG00553
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv10437169
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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