A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8679262



Internal ID13672063
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:40045760..40045779hg38UCSC Ensembl
Innerchr7:40045756..40045783hg38UCSC Ensembl
Outerchr7:40045737..40045802hg38UCSC Ensembl
chr7:40085359..40085378hg19UCSC Ensembl
Innerchr7:40085355..40085382hg19UCSC Ensembl
Outerchr7:40085336..40085401hg19UCSC Ensembl
chr7:40051884..40051903hg18UCSC Ensembl
Innerchr7:40051907..40051880hg18UCSC Ensembl
Outerchr7:40051861..40051926hg18UCSC Ensembl
Cytoband7p14.1
Allele length
AssemblyAllele length
hg386000
hg196000
hg186000
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3377666
Supporting Variants
SamplesNA12878
Known GenesCDK13
MethodSequencing
Analysis
Platform454
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8679262
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