A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3588942



Internal ID6976358
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:222503457..222519245hg38UCSC Ensembl
chr1:222676799..222692587hg19UCSC Ensembl
Cytoband1q41
Allele length
AssemblyAllele length
hg3815789
hg1915789
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10303609, essv10303607, essv10303606, essv10303608
SamplesNA18486, NA19317, NA18516, NA19214
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3588942
Frequency
Sample Size2504
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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