A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10432563



Internal ID3033476
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:23377776..23383220hg38UCSC Ensembl
Innerchr2:23377795..23383201hg38UCSC Ensembl
Outerchr2:23377757..23383239hg38UCSC Ensembl
chr2:23600647..23606091hg19UCSC Ensembl
Innerchr2:23600666..23606072hg19UCSC Ensembl
Outerchr2:23600628..23606110hg19UCSC Ensembl
Cytoband2p24.1
Allele length
AssemblyAllele length
hg385445
hg195445
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3590056
Supporting Variants
SamplesHG02675
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv10432563
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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