A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10025266



Internal ID2347135
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:96472762..96488924hg38UCSC Ensembl
chr1:96938318..96954480hg19UCSC Ensembl
Cytoband1p21.3
Allele length
AssemblyAllele length
hg3816163
hg1916163
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3586865
Supporting Variants
SamplesHG02082
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv10025266
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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