A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10430723



Internal ID6808202
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:22962300..22985493hg38UCSC Ensembl
Innerchr2:22962327..22985467hg38UCSC Ensembl
Outerchr2:22962274..22985520hg38UCSC Ensembl
chr2:23185172..23208365hg19UCSC Ensembl
Innerchr2:23185199..23208339hg19UCSC Ensembl
Outerchr2:23185146..23208392hg19UCSC Ensembl
Cytoband2p24.1
Allele length
AssemblyAllele length
hg3823194
hg1923194
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3590051
Supporting Variants
SamplesNA20894
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv10430723
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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