A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8674972



Internal ID15079006
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:123314862..123314878hg38UCSC Ensembl
Innerchr3:123314855..123314883hg38UCSC Ensembl
Outerchr3:123314839..123314899hg38UCSC Ensembl
chr3:123033709..123033725hg19UCSC Ensembl
Innerchr3:123033702..123033730hg19UCSC Ensembl
Outerchr3:123033686..123033746hg19UCSC Ensembl
chr3:124516399..124516415hg18UCSC Ensembl
Innerchr3:124516420..124516392hg18UCSC Ensembl
Outerchr3:124516376..124516436hg18UCSC Ensembl
Cytoband3q21.1
Allele length
AssemblyAllele length
hg381144
hg191144
hg181144
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3353243
Supporting Variants
SamplesNA19240
Known GenesADCY5
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8674972
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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