A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8691729



Internal ID13735131
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:103755207..103760905hg38UCSC Ensembl
Innerchr1:103756207..103759905hg38UCSC Ensembl
Outerchr1:103754207..103761905hg38UCSC Ensembl
chr1:104297829..104303527hg19UCSC Ensembl
Innerchr1:104298829..104302527hg19UCSC Ensembl
Outerchr1:104296829..104304527hg19UCSC Ensembl
chr1:104099352..104105050hg18UCSC Ensembl
Innerchr1:104100352..104104050hg18UCSC Ensembl
Outerchr1:104098352..104106050hg18UCSC Ensembl
Cytoband1p21.1
Allele length
AssemblyAllele length
hg385699
hg195699
hg185699
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsesv3356736
Supporting Variants
SamplesNA12892
Known GenesAMY1A, AMY1B, AMY1C
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8691729
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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