A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3442343



Internal ID15289296
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:72552885..72552904hg38UCSC Ensembl
Innerchr1:72552881..72552908hg38UCSC Ensembl
Outerchr1:72552862..72552927hg38UCSC Ensembl
chr1:73018568..73018587hg19UCSC Ensembl
Innerchr1:73018564..73018591hg19UCSC Ensembl
Outerchr1:73018545..73018610hg19UCSC Ensembl
chr1:72791156..72791175hg18UCSC Ensembl
Innerchr1:72791179..72791152hg18UCSC Ensembl
Outerchr1:72791133..72791198hg18UCSC Ensembl
Cytoband1p31.1
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 Variantsessv9594768
SamplesNA11931
Known Genes
MethodSequencing
Analysis
Platform454
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3442343
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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