A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12232836



Internal ID3557604
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:26442526..26447811hg38UCSC Ensembl
Innerchr6:26442530..26447807hg38UCSC Ensembl
Outerchr6:26442522..26447815hg38UCSC Ensembl
chr6:26442754..26448039hg19UCSC Ensembl
Innerchr6:26442758..26448035hg19UCSC Ensembl
Outerchr6:26442750..26448043hg19UCSC Ensembl
Cytoband6p22.2
Allele length
AssemblyAllele length
hg385286
hg195286
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3608406
Supporting Variants
SamplesHG03136
Known GenesBTN3A3
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12232836
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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