A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8692237



Internal ID13710935
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:248933030..248938897hg38UCSC Ensembl
Innerchr1:248934030..248937928hg38UCSC Ensembl
Outerchr1:248932030..248938897hg38UCSC Ensembl
chr1:249227229..249233096hg19UCSC Ensembl
Innerchr1:249228229..249232127hg19UCSC Ensembl
Outerchr1:249226229..249233096hg19UCSC Ensembl
chr1:247193852..247199750hg18UCSC Ensembl
Innerchr1:247194852..247198750hg18UCSC Ensembl
Outerchr1:247192852..247200750hg18UCSC Ensembl
Cytoband1q44
Allele length
AssemblyAllele length
hg385868
hg195868
hg185899
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag0
Merged StatusS
Merged Variantsesv3415699
Supporting Variants
SamplesNA12891
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8692237
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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