A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12232690



Internal ID861996
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:26196282..26207207hg38UCSC Ensembl
chr6:26196510..26207435hg19UCSC Ensembl
Cytoband6p22.2
Allele length
AssemblyAllele length
hg3810926
hg1910926
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3608399
Supporting Variants
SamplesHG00451
Known GenesHIST1H2AD, HIST1H2BF, HIST1H3D, HIST1H4E
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12232690
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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