A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8692255



Internal ID13736807
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:2651953..2702751hg38UCSC Ensembl
Innerchr1:2652953..2701751hg38UCSC Ensembl
Outerchr1:2650953..2702781hg38UCSC Ensembl
chr1:2583392..2634190hg19UCSC Ensembl
Innerchr1:2584392..2633190hg19UCSC Ensembl
Outerchr1:2582392..2634220hg19UCSC Ensembl
chr1:2573252..2624050hg18UCSC Ensembl
Innerchr1:2574252..2623050hg18UCSC Ensembl
Outerchr1:2572252..2625050hg18UCSC Ensembl
Cytoband1p36.32
Allele length
AssemblyAllele length
hg3850799
hg1950799
hg1850799
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsesv3350831
Supporting Variants
SamplesNA12892
Known GenesTTC34
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8692255
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