A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3363699



Internal ID15210677
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:103747907..103751405hg38UCSC Ensembl
Innerchr1:103748907..103750405hg38UCSC Ensembl
Outerchr1:103746907..103752405hg38UCSC Ensembl
chr1:104290529..104294027hg19UCSC Ensembl
Innerchr1:104291529..104293027hg19UCSC Ensembl
Outerchr1:104289529..104295027hg19UCSC Ensembl
chr1:104092052..104095550hg18UCSC Ensembl
Innerchr1:104093052..104094550hg18UCSC Ensembl
Outerchr1:104091052..104096550hg18UCSC Ensembl
Cytoband1p21.1
Allele length
AssemblyAllele length
hg383499
hg193499
hg183499
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8691727
SamplesNA19239
Known GenesAMY1A, AMY1B, AMY1C
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3363699
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer