A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3440926



Internal ID15287879
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:90020569..90020594hg38UCSC Ensembl
Innerchr6:90020573..90020590hg38UCSC Ensembl
Outerchr6:90020548..90020615hg38UCSC Ensembl
chr6:90730288..90730313hg19UCSC Ensembl
Innerchr6:90730292..90730309hg19UCSC Ensembl
Outerchr6:90730267..90730334hg19UCSC Ensembl
chr6:90787009..90787034hg18UCSC Ensembl
Innerchr6:90787030..90787013hg18UCSC Ensembl
Outerchr6:90786988..90787055hg18UCSC Ensembl
Cytoband6q15
Allele length
AssemblyAllele length
hg38237
hg19237
hg18237
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8931171, essv8931173, essv8931168, essv8931175, essv8931172, essv8931169, essv8931167, essv8931174
SamplesNA11829, NA18507, NA11920, NA12287, NA12003, NA18499, NA18505, NA12154
Known GenesBACH2
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3440926
Frequency
Sample Size185
Observed Gain8
Observed Loss0
Observed Complex0
Frequencyn/a


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