A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7837624



Internal ID15082095
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:4471993..4471994hg38UCSC Ensembl
Innerchr1:4471954..4472033hg38UCSC Ensembl
Outerchr1:4471953..4472034hg38UCSC Ensembl
chr1:4532053..4532054hg19UCSC Ensembl
Innerchr1:4532014..4532093hg19UCSC Ensembl
Outerchr1:4532013..4532094hg19UCSC Ensembl
chr1:4431913..4431914hg18UCSC Ensembl
Innerchr1:4431953..4431874hg18UCSC Ensembl
Outerchr1:4431873..4431954hg18UCSC Ensembl
Cytoband1p36.32
Allele length
AssemblyAllele length
hg38146
hg19146
hg18146
Variant TypeCNV mobile element insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3310012
Supporting Variants
SamplesNA19240
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv7837624
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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