A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12180064



Internal ID5152593
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:5692422..5706701hg38UCSC Ensembl
Innerchr6:5692439..5706685hg38UCSC Ensembl
Outerchr6:5692406..5706718hg38UCSC Ensembl
chr6:5692655..5706934hg19UCSC Ensembl
Innerchr6:5692672..5706918hg19UCSC Ensembl
Outerchr6:5692639..5706951hg19UCSC Ensembl
Cytoband6p25.1
Allele length
AssemblyAllele length
hg3814280
hg1914280
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3607979
Supporting Variants
SamplesNA18582
Known GenesFARS2
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12180064
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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