A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8695317



Internal ID13298922
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:601152..603550hg38UCSC Ensembl
Innerchr6:602152..602550hg38UCSC Ensembl
Outerchr6:600152..604550hg38UCSC Ensembl
chr6:601152..603550hg19UCSC Ensembl
Innerchr6:602152..602550hg19UCSC Ensembl
Outerchr6:600152..604550hg19UCSC Ensembl
chr6:546152..548550hg18UCSC Ensembl
Innerchr6:547152..547550hg18UCSC Ensembl
Outerchr6:545152..549550hg18UCSC Ensembl
Cytoband6p25.3
Allele length
AssemblyAllele length
hg382399
hg192399
hg182399
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3386006
Supporting Variants
SamplesNA12878
Known GenesEXOC2
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8695317
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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