A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3594093



Internal ID6981413
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:207653622..207664193hg38UCSC Ensembl
chr2:208518346..208528917hg19UCSC Ensembl
Cytoband2q33.3
Allele length
AssemblyAllele length
hg3810572
hg1910572
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv757e214
Supporting Variantsessv10832789
SamplesHG02623
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3594093
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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