A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8691730



Internal ID15064345
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:103756407..103761205hg38UCSC Ensembl
Innerchr1:103757407..103760205hg38UCSC Ensembl
Outerchr1:103755407..103762205hg38UCSC Ensembl
chr1:104299029..104303827hg19UCSC Ensembl
Innerchr1:104300029..104302827hg19UCSC Ensembl
Outerchr1:104298029..104304827hg19UCSC Ensembl
chr1:104100552..104105350hg18UCSC Ensembl
Innerchr1:104101552..104104350hg18UCSC Ensembl
Outerchr1:104099552..104106350hg18UCSC Ensembl
Cytoband1p21.1
Allele length
AssemblyAllele length
hg384799
hg194799
hg184799
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsesv3368815
Supporting Variants
SamplesNA19239
Known GenesAMY1A, AMY1B, AMY1C
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8691730
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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