A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3304870



Internal ID14805132
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:161868754..161868755hg38UCSC Ensembl
Innerchr1:161868732..161868777hg38UCSC Ensembl
Outerchr1:161868731..161868778hg38UCSC Ensembl
chr1:161838544..161838545hg19UCSC Ensembl
Innerchr1:161838522..161838567hg19UCSC Ensembl
Outerchr1:161838521..161838568hg19UCSC Ensembl
chr1:160105168..160105169hg18UCSC Ensembl
Innerchr1:160105191..160105146hg18UCSC Ensembl
Outerchr1:160105145..160105192hg18UCSC Ensembl
Cytoband1q23.3
Allele length
AssemblyAllele length
hg38300
hg19300
hg18300
Variant TypeCNV mobile element insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7764476
SamplesNA11840
Known GenesATF6
MethodSequencing
Analysis
PlatformRoche 454
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3304870
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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