A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3394008



Internal ID14894287
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:135427999..135428007hg38UCSC Ensembl
Innerchr6:135427982..135428024hg38UCSC Ensembl
Outerchr6:135427974..135428032hg38UCSC Ensembl
chr6:135749137..135749145hg19UCSC Ensembl
Innerchr6:135749120..135749162hg19UCSC Ensembl
Outerchr6:135749112..135749170hg19UCSC Ensembl
chr6:135790830..135790838hg18UCSC Ensembl
Innerchr6:135790855..135790813hg18UCSC Ensembl
Outerchr6:135790805..135790863hg18UCSC Ensembl
Cytoband6q23.3
Allele length
AssemblyAllele length
hg3852
hg1952
hg1852
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7864656
SamplesNA12005
Known GenesAHI1, MIR548H4
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3394008
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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