A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3607931



Internal ID6994862
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:3365176..3366208hg38UCSC Ensembl
Innerchr6:3365216..3366168hg38UCSC Ensembl
Outerchr6:3365136..3366248hg38UCSC Ensembl
chr6:3365410..3366442hg19UCSC Ensembl
Innerchr6:3365450..3366402hg19UCSC Ensembl
Outerchr6:3365370..3366482hg19UCSC Ensembl
Cytoband6p25.2
Allele length
AssemblyAllele length
hg381033
hg191033
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv12179133, essv12179132, essv12179127, essv12179128, essv12179129, essv12179131, essv12179130
SamplesHG01610, NA12814, HG01971, HG01673, HG01777, HG01479, HG01125
Known GenesSLC22A23
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3607931
Frequency
Sample Size2504
Observed Gain0
Observed Loss7
Observed Complex0
Frequencyn/a


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