A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8647367



Internal ID15146763
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:137059140..137059140hg38UCSC Ensembl
Innerchr5:137059139..137059141hg38UCSC Ensembl
Outerchr5:137059100..137059160hg38UCSC Ensembl
chr5:136394829..136394829hg19UCSC Ensembl
Innerchr5:136394828..136394830hg19UCSC Ensembl
Outerchr5:136394789..136394849hg19UCSC Ensembl
chr5:136422728..136422728hg18UCSC Ensembl
Innerchr5:136422729..136422727hg18UCSC Ensembl
Outerchr5:136422688..136422748hg18UCSC Ensembl
Cytoband5q31.2
Allele length
AssemblyAllele length
hg38235
hg19235
hg18235
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3368747
Supporting Variants
Samples
Known GenesSPOCK1
MethodSequencing
Analysis
Platform454
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8647367
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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