A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10832790



Internal ID3836029
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:207653622..207664193hg38UCSC Ensembl
chr2:208518346..208528917hg19UCSC Ensembl
Cytoband2q33.3
Allele length
AssemblyAllele length
hg3810572
hg1910572
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3594094
Supporting Variants
SamplesHG03472
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv10832790
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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