A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8674040



Internal ID13685649
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:57606197..57606201hg38UCSC Ensembl
Innerchr1:57606189..57606209hg38UCSC Ensembl
Outerchr1:57606185..57606213hg38UCSC Ensembl
chr1:58071869..58071873hg19UCSC Ensembl
Innerchr1:58071861..58071881hg19UCSC Ensembl
Outerchr1:58071857..58071885hg19UCSC Ensembl
chr1:57844457..57844461hg18UCSC Ensembl
Innerchr1:57844469..57844449hg18UCSC Ensembl
Outerchr1:57844445..57844473hg18UCSC Ensembl
Cytoband1p32.2
Allele length
AssemblyAllele length
hg38192
hg19192
hg18192
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3359170
Supporting Variants
SamplesNA12878
Known GenesDAB1
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8674040
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