A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8694185



Internal ID13719411
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:95657418..95659516hg38UCSC Ensembl
Innerchr3:95658418..95658516hg38UCSC Ensembl
Outerchr3:95656418..95660516hg38UCSC Ensembl
chr3:95376262..95378360hg19UCSC Ensembl
Innerchr3:95377262..95377360hg19UCSC Ensembl
Outerchr3:95375262..95379360hg19UCSC Ensembl
chr3:96858952..96861050hg18UCSC Ensembl
Innerchr3:96859952..96860050hg18UCSC Ensembl
Outerchr3:96857952..96862050hg18UCSC Ensembl
Cytoband3q11.2
Allele length
AssemblyAllele length
hg382099
hg192099
hg182099
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3345716
Supporting Variants
SamplesNA12892
Known GenesMTHFD2P1
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8694185
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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