A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3334490



Internal ID14834763
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:132776805..132776824hg38UCSC Ensembl
Innerchr6:132776801..132776828hg38UCSC Ensembl
Outerchr6:132776782..132776847hg38UCSC Ensembl
chr6:133097944..133097963hg19UCSC Ensembl
Innerchr6:133097940..133097967hg19UCSC Ensembl
Outerchr6:133097921..133097986hg19UCSC Ensembl
chr6:133139637..133139656hg18UCSC Ensembl
Innerchr6:133139660..133139633hg18UCSC Ensembl
Outerchr6:133139614..133139679hg18UCSC Ensembl
Cytoband6q23.2
Allele length
AssemblyAllele length
hg386000
hg196000
hg186000
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9631248
SamplesNA12814
Known GenesSLC18B1
MethodSequencing
Analysis
Platform454
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3334490
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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