A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10491052



Internal ID3052704
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:47276061..47277776hg38UCSC Ensembl
Innerchr2:47276080..47277758hg38UCSC Ensembl
Outerchr2:47276043..47277795hg38UCSC Ensembl
chr2:47503200..47504915hg19UCSC Ensembl
Innerchr2:47503219..47504897hg19UCSC Ensembl
Outerchr2:47503182..47504934hg19UCSC Ensembl
Cytoband2p21
Allele length
AssemblyAllele length
hg381716
hg191716
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3590627
Supporting Variants
SamplesHG02684
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv10491052
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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