A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10559504



Internal ID3224425
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:80844869..80912630hg38UCSC Ensembl
chr2:81071994..81139755hg19UCSC Ensembl
Cytoband2p12
Allele length
AssemblyAllele length
hg3867762
hg1967762
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3591435
Supporting Variants
SamplesHG02837
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv10559504
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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