A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3406241



Internal ID14906517
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:170994893..170994929hg38UCSC Ensembl
Innerchr1:170994894..170994925hg38UCSC Ensembl
Outerchr1:170994861..170994961hg38UCSC Ensembl
chr1:170964034..170964070hg19UCSC Ensembl
Innerchr1:170964035..170964066hg19UCSC Ensembl
Outerchr1:170964002..170964102hg19UCSC Ensembl
chr1:169230658..169230694hg18UCSC Ensembl
Innerchr1:169230690..169230659hg18UCSC Ensembl
Outerchr1:169230626..169230726hg18UCSC Ensembl
Cytoband1q24.3
Allele length
AssemblyAllele length
hg38265
hg19265
hg18265
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8673803, essv8673802
SamplesNA12891, NA12878
Known GenesMROH9
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3406241
Frequency
Sample Size185
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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