A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3397102



Internal ID15244065
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:42514569..42514588hg38UCSC Ensembl
Innerchr6:42514565..42514592hg38UCSC Ensembl
Outerchr6:42514546..42514611hg38UCSC Ensembl
chr6:42482307..42482326hg19UCSC Ensembl
Innerchr6:42482303..42482330hg19UCSC Ensembl
Outerchr6:42482284..42482349hg19UCSC Ensembl
chr6:42590285..42590304hg18UCSC Ensembl
Innerchr6:42590308..42590281hg18UCSC Ensembl
Outerchr6:42590262..42590327hg18UCSC Ensembl
Cytoband6p21.1
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 Variantsessv8679149
SamplesNA12878
Known Genes
MethodSequencing
Analysis
Platform454
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3397102
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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