A curated catalogue of human genomic structural variation




Variant Details

Variant: essv9978385



Internal ID4365008
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:76445175..76453739hg38UCSC Ensembl
chr1:76910860..76919424hg19UCSC Ensembl
Cytoband1p31.1
Allele length
AssemblyAllele length
hg388565
hg198565
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3586499
Supporting Variants
SamplesHG03897
Known GenesST6GALNAC3
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv9978385
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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