A curated catalogue of human genomic structural variation




Variant Details

Variant: essv9615024



Internal ID12846116
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:47005751..47005770hg38UCSC Ensembl
Innerchr4:47005747..47005774hg38UCSC Ensembl
Outerchr4:47005728..47005793hg38UCSC Ensembl
chr4:47007768..47007787hg19UCSC Ensembl
Innerchr4:47007764..47007791hg19UCSC Ensembl
Outerchr4:47007745..47007810hg19UCSC Ensembl
chr4:46702525..46702544hg18UCSC Ensembl
Innerchr4:46702548..46702521hg18UCSC Ensembl
Outerchr4:46702502..46702567hg18UCSC Ensembl
Cytoband4p12
Allele length
AssemblyAllele length
hg386000
hg196000
hg186000
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsesv3448499
Supporting Variants
SamplesNA11918
Known Genes
MethodSequencing
Analysis
Platform454
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv9615024
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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