A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8691707



Internal ID13735043
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:103636207..103659205hg38UCSC Ensembl
Innerchr1:103637207..103658205hg38UCSC Ensembl
Outerchr1:103635207..103660205hg38UCSC Ensembl
chr1:104178829..104201827hg19UCSC Ensembl
Innerchr1:104179829..104200827hg19UCSC Ensembl
Outerchr1:104177829..104202827hg19UCSC Ensembl
chr1:103980352..104003350hg18UCSC Ensembl
Innerchr1:103981352..104002350hg18UCSC Ensembl
Outerchr1:103979352..104004350hg18UCSC Ensembl
Cytoband1p21.1
Allele length
AssemblyAllele length
hg3822999
hg1922999
hg1822999
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsesv3440390
Supporting Variants
SamplesNA12892
Known GenesAMY1A, AMY1B, AMY1C
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8691707
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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