A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8676167



Internal ID13644457
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:12101900..12101948hg38UCSC Ensembl
Innerchr6:12101900..12101946hg38UCSC Ensembl
Outerchr6:12101852..12101994hg38UCSC Ensembl
chr6:12102133..12102181hg19UCSC Ensembl
Innerchr6:12102133..12102179hg19UCSC Ensembl
Outerchr6:12102085..12102227hg19UCSC Ensembl
chr6:12210119..12210167hg18UCSC Ensembl
Innerchr6:12210165..12210119hg18UCSC Ensembl
Outerchr6:12210071..12210213hg18UCSC Ensembl
Cytoband6p24.1
Allele length
AssemblyAllele length
hg38275
hg19275
hg18275
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3398493
Supporting Variants
SamplesNA12878
Known GenesHIVEP1
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8676167
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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