A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12244306



Internal ID2246122
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:29883395..29936738hg38UCSC Ensembl
Innerchr6:29883395..29936738hg38UCSC Ensembl
Outerchr6:29882895..29937238hg38UCSC Ensembl
chr6:29851172..29904515hg19UCSC Ensembl
Innerchr6:29851172..29904515hg19UCSC Ensembl
Outerchr6:29850672..29905015hg19UCSC Ensembl
Cytoband6p22.1
Allele length
AssemblyAllele length
hg3853344
hg1953344
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3608493
Supporting Variants
SamplesHG04063
Known GenesHCG4B, HLA-H
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12244306
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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