A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10032568



Internal ID34384
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:101158087..101351431hg38UCSC Ensembl
chr1:101623643..101816987hg19UCSC Ensembl
Cytoband1p21.2
Allele length
AssemblyAllele length
hg38193345
hg19193345
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3586963
Supporting Variants
SamplesHG02489
Known GenesLOC101928370, RNU6-31P, S1PR1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv10032568
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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