A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12232485



Internal ID2234301
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:26103098..26124338hg38UCSC Ensembl
chr6:26103326..26124566hg19UCSC Ensembl
Cytoband6p22.2
Allele length
AssemblyAllele length
hg3821241
hg1921241
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3608393
Supporting Variants
SamplesHG00451
Known GenesHIST1H1T, HIST1H2AC, HIST1H2BC, HIST1H4C
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12232485
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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