A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12238822



Internal ID2240638
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:27823835..27828656hg38UCSC Ensembl
Innerchr6:27823875..27828617hg38UCSC Ensembl
Outerchr6:27823796..27828696hg38UCSC Ensembl
chr6:27791613..27796434hg19UCSC Ensembl
Innerchr6:27791653..27796395hg19UCSC Ensembl
Outerchr6:27791574..27796474hg19UCSC Ensembl
Cytoband6p22.1
Allele length
AssemblyAllele length
hg384822
hg194822
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3608440
Supporting Variants
SamplesHG02146
Known GenesHIST1H4J
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12238822
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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