A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3442040



Internal ID14942307
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:126185565..126185581hg38UCSC Ensembl
Innerchr3:126185563..126185581hg38UCSC Ensembl
Outerchr3:126185549..126185597hg38UCSC Ensembl
chr3:125904408..125904424hg19UCSC Ensembl
Innerchr3:125904406..125904424hg19UCSC Ensembl
Outerchr3:125904392..125904440hg19UCSC Ensembl
chr3:127387098..127387114hg18UCSC Ensembl
Innerchr3:127387114..127387096hg18UCSC Ensembl
Outerchr3:127387082..127387130hg18UCSC Ensembl
Cytoband3q21.2
Allele length
AssemblyAllele length
hg38285
hg19285
hg18285
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8674977
SamplesNA19239
Known GenesALDH1L1-AS2
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3442040
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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