A curated catalogue of human genomic structural variation




Variant Details

Variant: essv9597958



Internal ID13023765
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:208090627..208090646hg38UCSC Ensembl
Innerchr1:208090623..208090650hg38UCSC Ensembl
Outerchr1:208090604..208090669hg38UCSC Ensembl
chr1:208263972..208263991hg19UCSC Ensembl
Innerchr1:208263968..208263995hg19UCSC Ensembl
Outerchr1:208263949..208264014hg19UCSC Ensembl
chr1:206330595..206330614hg18UCSC Ensembl
Innerchr1:206330618..206330591hg18UCSC Ensembl
Outerchr1:206330572..206330637hg18UCSC Ensembl
Cytoband1q32.2
Allele length
AssemblyAllele length
hg386000
hg196000
hg186000
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3447338
Supporting Variants
SamplesNA12045
Known GenesPLXNA2
MethodSequencing
Analysis
Platform454
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv9597958
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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