A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3607979



Internal ID6994910
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 State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv12180064
SamplesNA18582
Known GenesFARS2
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3607979
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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