A curated catalogue of human genomic structural variation




Variant Details

Variant: essv9625114



Internal ID13616952
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:155126669..155126688hg38UCSC Ensembl
Innerchr5:155126665..155126692hg38UCSC Ensembl
Outerchr5:155126646..155126711hg38UCSC Ensembl
chr5:154506229..154506248hg19UCSC Ensembl
Innerchr5:154506225..154506252hg19UCSC Ensembl
Outerchr5:154506206..154506271hg19UCSC Ensembl
chr5:154486422..154486441hg18UCSC Ensembl
Innerchr5:154486445..154486418hg18UCSC Ensembl
Outerchr5:154486399..154486464hg18UCSC Ensembl
Cytoband5q33.2
Allele length
AssemblyAllele length
hg386000
hg196000
hg186000
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3447945
Supporting Variants
SamplesNA12872
Known Genes
MethodSequencing
Analysis
Platform454
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv9625114
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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