A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3589584



Internal ID6976913
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:248926514..248938526hg38UCSC Ensembl
chr1:249220713..249232725hg19UCSC Ensembl
Cytoband1q44
Allele length
AssemblyAllele length
hg3812013
hg1912013
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10383026, essv10383024, essv10383025
SamplesHG02231, HG03028, NA19463
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3589584
Frequency
Sample Size2504
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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