A curated catalogue of human genomic structural variation




Variant Details

Variant: essv9596412



Internal ID13171711
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:152471402..152471421hg38UCSC Ensembl
Innerchr1:152471398..152471425hg38UCSC Ensembl
Outerchr1:152471379..152471444hg38UCSC Ensembl
chr1:152443878..152443897hg19UCSC Ensembl
Innerchr1:152443874..152443901hg19UCSC Ensembl
Outerchr1:152443855..152443920hg19UCSC Ensembl
chr1:150710502..150710521hg18UCSC Ensembl
Innerchr1:150710525..150710498hg18UCSC Ensembl
Outerchr1:150710479..150710544hg18UCSC Ensembl
Cytoband1q21.3
Allele length
AssemblyAllele length
hg386000
hg196000
hg186000
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3444140
Supporting Variants
SamplesNA11881
Known Genes
MethodSequencing
Analysis
Platform454
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv9596412
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