A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8691716



Internal ID13735080
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:103691907..103696505hg38UCSC Ensembl
Innerchr1:103692907..103695505hg38UCSC Ensembl
Outerchr1:103690907..103697505hg38UCSC Ensembl
chr1:104234529..104239127hg19UCSC Ensembl
Innerchr1:104235529..104238127hg19UCSC Ensembl
Outerchr1:104233529..104240127hg19UCSC Ensembl
chr1:104036052..104040650hg18UCSC Ensembl
Innerchr1:104037052..104039650hg18UCSC Ensembl
Outerchr1:104035052..104041650hg18UCSC Ensembl
Cytoband1p21.1
Allele length
AssemblyAllele length
hg384599
hg194599
hg184599
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsesv3440685
Supporting Variants
SamplesNA12892
Known GenesAMY1A, AMY1B, AMY1C
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8691716
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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