A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3426894



Internal ID14927165
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:156371245..156371245hg38UCSC Ensembl
Innerchr1:156371244..156371246hg38UCSC Ensembl
Outerchr1:156371195..156371295hg38UCSC Ensembl
chr1:156341036..156341036hg19UCSC Ensembl
Innerchr1:156341035..156341037hg19UCSC Ensembl
Outerchr1:156340986..156341086hg19UCSC Ensembl
chr1:154607660..154607660hg18UCSC Ensembl
Innerchr1:154607661..154607659hg18UCSC Ensembl
Outerchr1:154607610..154607710hg18UCSC Ensembl
Cytoband1q22
Allele length
AssemblyAllele length
hg381014
hg191014
hg181014
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8740939
SamplesNA19240
Known GenesRHBG
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3426894
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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