A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10522154



Internal ID5943572
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:62507583..62532882hg38UCSC Ensembl
chr2:62734718..62760017hg19UCSC Ensembl
Cytoband2p15
Allele length
AssemblyAllele length
hg3825300
hg1925300
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3591041
Supporting Variants
SamplesNA19355
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv10522154
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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