A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3391037



Internal ID15238004
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:38565489..38565519hg38UCSC Ensembl
Innerchr6:38565501..38565505hg38UCSC Ensembl
Outerchr6:38565475..38565531hg38UCSC Ensembl
chr6:38533265..38533295hg19UCSC Ensembl
Innerchr6:38533277..38533281hg19UCSC Ensembl
Outerchr6:38533251..38533307hg19UCSC Ensembl
chr6:38641243..38641273hg18UCSC Ensembl
Innerchr6:38641255..38641259hg18UCSC Ensembl
Outerchr6:38641229..38641285hg18UCSC Ensembl
Cytoband6p21.2
Allele length
AssemblyAllele length
hg38201
hg19201
hg18201
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8928965, essv8928963, essv8928964
SamplesNA18907, NA06986, NA19129
Known GenesBTBD9
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3391037
Frequency
Sample Size185
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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