A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7863777



Internal ID13316208
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:173785747..173785759hg38UCSC Ensembl
Innerchr1:173785724..173785782hg38UCSC Ensembl
Outerchr1:173785712..173785794hg38UCSC Ensembl
chr1:173754885..173754897hg19UCSC Ensembl
Innerchr1:173754862..173754920hg19UCSC Ensembl
Outerchr1:173754850..173754932hg19UCSC Ensembl
chr1:172021508..172021520hg18UCSC Ensembl
Innerchr1:172021543..172021485hg18UCSC Ensembl
Outerchr1:172021473..172021555hg18UCSC Ensembl
Cytoband1q25.1
Allele length
AssemblyAllele length
hg3851
hg1951
hg1851
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3418161
Supporting Variants
SamplesNA12005
Known GenesKLHL20
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv7863777
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