A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10308255



Internal ID310071
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:225469902..225499153hg38UCSC Ensembl
chr1:225657604..225686855hg19UCSC Ensembl
Cytoband1q42.12
Allele length
AssemblyAllele length
hg3829252
hg1929252
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3588992
Supporting Variants
SamplesNA18621
Known GenesENAH
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv10308255
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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