A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3306159



Internal ID14806421
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:56798925..56798926hg38UCSC Ensembl
Innerchr1:56798903..56798948hg38UCSC Ensembl
Outerchr1:56798902..56798949hg38UCSC Ensembl
chr1:57264598..57264599hg19UCSC Ensembl
Innerchr1:57264576..57264621hg19UCSC Ensembl
Outerchr1:57264575..57264622hg19UCSC Ensembl
chr1:57037186..57037187hg18UCSC Ensembl
Innerchr1:57037209..57037164hg18UCSC Ensembl
Outerchr1:57037163..57037210hg18UCSC Ensembl
Cytoband1p32.2
Allele length
AssemblyAllele length
hg38141
hg19141
hg18141
Variant TypeCNV mobile element insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7765588
SamplesNA12815
Known GenesC1orf168
MethodSequencing
Analysis
PlatformRoche 454
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3306159
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