A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3450329



Internal ID14950591
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:161868757..161868776hg38UCSC Ensembl
Innerchr1:161868753..161868780hg38UCSC Ensembl
Outerchr1:161868734..161868799hg38UCSC Ensembl
chr1:161838547..161838566hg19UCSC Ensembl
Innerchr1:161838543..161838570hg19UCSC Ensembl
Outerchr1:161838524..161838589hg19UCSC Ensembl
chr1:160105171..160105190hg18UCSC Ensembl
Innerchr1:160105194..160105167hg18UCSC Ensembl
Outerchr1:160105148..160105213hg18UCSC Ensembl
Cytoband1q23.3
Allele length
AssemblyAllele length
hg38300
hg19300
hg18300
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9596479
SamplesNA11840
Known GenesATF6
MethodSequencing
Analysis
Platform454
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3450329
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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