A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8701370



Internal ID13296366
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:60878385..60878385hg38UCSC Ensembl
Innerchr1:60878384..60878386hg38UCSC Ensembl
Outerchr1:60878335..60878435hg38UCSC Ensembl
chr1:61344057..61344057hg19UCSC Ensembl
Innerchr1:61344056..61344058hg19UCSC Ensembl
Outerchr1:61344007..61344107hg19UCSC Ensembl
chr1:61116645..61116645hg18UCSC Ensembl
Innerchr1:61116646..61116644hg18UCSC Ensembl
Outerchr1:61116595..61116695hg18UCSC Ensembl
Cytoband1p31.3
Allele length
AssemblyAllele length
hg3853
hg1953
hg1853
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3445984
Supporting Variants
SamplesNA12878
Known Genes
MethodSequencing
Analysis
Platform454
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8701370
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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