A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3451111



Internal ID14951372
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:7856617..7856617hg38UCSC Ensembl
Innerchr1:7856616..7856618hg38UCSC Ensembl
Outerchr1:7856567..7856667hg38UCSC Ensembl
chr1:7916677..7916677hg19UCSC Ensembl
Innerchr1:7916676..7916678hg19UCSC Ensembl
Outerchr1:7916627..7916727hg19UCSC Ensembl
chr1:7839264..7839264hg18UCSC Ensembl
Innerchr1:7839265..7839263hg18UCSC Ensembl
Outerchr1:7839214..7839314hg18UCSC Ensembl
Cytoband1p36.23
Allele length
AssemblyAllele length
hg3863
hg1963
hg1863
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8701371
SamplesNA12878
Known Genes
MethodSequencing
Analysis
Platform454
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3451111
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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