A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3585954



Internal ID6626268
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:47248325..47258549hg38UCSC Ensembl
chr1:47713997..47724221hg19UCSC Ensembl
Cytoband1p33
Allele length
AssemblyAllele length
hg3810225
hg1910225
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9926600, essv9926603, essv9926601, essv9926599, essv9926602, essv9926597, essv9926598, essv9926604
SamplesHG00671, NA18547, HG00982, NA18548, HG00613, NA19059, NA18608, HG01798
Known GenesSTIL
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3585954
Frequency
Sample Size2504
Observed Gain8
Observed Loss0
Observed Complex0
Frequencyn/a


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