A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8701535



Internal ID13297894
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:69212972..69212972hg38UCSC Ensembl
Innerchr9:69212971..69212973hg38UCSC Ensembl
Outerchr9:69212922..69213022hg38UCSC Ensembl
chr9:71827888..71827888hg19UCSC Ensembl
Innerchr9:71827887..71827889hg19UCSC Ensembl
Outerchr9:71827838..71827938hg19UCSC Ensembl
chr9:71017708..71017708hg18UCSC Ensembl
Innerchr9:71017709..71017707hg18UCSC Ensembl
Outerchr9:71017658..71017758hg18UCSC Ensembl
Cytoband9q21.11
Allele length
AssemblyAllele length
hg3878
hg1978
hg1878
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsesv3434748
Supporting Variants
SamplesNA12878
Known GenesTJP2
MethodSequencing
Analysis
Platform454
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8701535
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