A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10420928



Internal ID2454790
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:17832712..17833634hg38UCSC Ensembl
Innerchr2:17832742..17833605hg38UCSC Ensembl
Outerchr2:17832683..17833664hg38UCSC Ensembl
chr2:18013979..18014901hg19UCSC Ensembl
Innerchr2:18014009..18014872hg19UCSC Ensembl
Outerchr2:18013950..18014931hg19UCSC Ensembl
Cytoband2p24.2
Allele length
AssemblyAllele length
hg38923
hg19923
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3589952
Supporting Variants
SamplesHG02156
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv10420928
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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