A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3585169



Internal ID6972693
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:9343608..9351312hg38UCSC Ensembl
chr1:9403667..9411371hg19UCSC Ensembl
Cytoband1p36.22
Allele length
AssemblyAllele length
hg387705
hg197705
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9850206
SamplesNA18544
Known GenesSPSB1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3585169
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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