A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3365988



Internal ID15212965
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:173186059..173186078hg38UCSC Ensembl
Innerchr5:173186055..173186082hg38UCSC Ensembl
Outerchr5:173186036..173186101hg38UCSC Ensembl
chr5:172613062..172613081hg19UCSC Ensembl
Innerchr5:172613058..172613085hg19UCSC Ensembl
Outerchr5:172613039..172613104hg19UCSC Ensembl
chr5:172545668..172545687hg18UCSC Ensembl
Innerchr5:172545691..172545664hg18UCSC Ensembl
Outerchr5:172545645..172545710hg18UCSC Ensembl
Cytoband5q35.1
Allele length
AssemblyAllele length
hg38300
hg19300
hg18300
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9625603
SamplesNA12043
Known Genes
MethodSequencing
Analysis
Platform454
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3365988
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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