A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12232688



Internal ID4870369
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:26196282..26207207hg38UCSC Ensembl
chr6:26196510..26207435hg19UCSC Ensembl
Cytoband6p22.2
Allele length
AssemblyAllele length
hg3810926
hg1910926
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3608398
Supporting Variants
SamplesNA12340
Known GenesHIST1H2AD, HIST1H2BF, HIST1H3D, HIST1H4E
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12232688
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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