A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3451372



Internal ID15298318
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:69745639..69747037hg38UCSC Ensembl
Innerchr6:69746037..69746639hg38UCSC Ensembl
Outerchr6:69744639..69748037hg38UCSC Ensembl
chr6:70455531..70456929hg19UCSC Ensembl
Innerchr6:70455929..70456531hg19UCSC Ensembl
Outerchr6:70454531..70457929hg19UCSC Ensembl
chr6:70512252..70513650hg18UCSC Ensembl
Innerchr6:70513252..70512650hg18UCSC Ensembl
Outerchr6:70511252..70514650hg18UCSC Ensembl
Cytoband6q13
Allele length
AssemblyAllele length
hg381399
hg191399
hg181399
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8695340
SamplesNA19239
Known GenesLMBRD1
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3451372
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer