A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8645405



Internal ID15143236
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:52696933..52696933hg38UCSC Ensembl
Innerchr3:52696932..52696934hg38UCSC Ensembl
Outerchr3:52696893..52696953hg38UCSC Ensembl
chr3:52730949..52730949hg19UCSC Ensembl
Innerchr3:52730948..52730950hg19UCSC Ensembl
Outerchr3:52730909..52730969hg19UCSC Ensembl
chr3:52705989..52705989hg18UCSC Ensembl
Innerchr3:52705990..52705988hg18UCSC Ensembl
Outerchr3:52705949..52706009hg18UCSC Ensembl
Cytoband3p21.1
Allele length
AssemblyAllele length
hg3887
hg1987
hg1887
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3336498
Supporting Variants
Samples
Known GenesGLT8D1
MethodSequencing
Analysis
Platform454
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8645405
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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