A curated catalogue of human genomic structural variation




Variant Details

Variant: essv9616512



Internal ID13446141
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:80215514..80215533hg38UCSC Ensembl
Innerchr4:80215510..80215537hg38UCSC Ensembl
Outerchr4:80215491..80215556hg38UCSC Ensembl
chr4:81136668..81136687hg19UCSC Ensembl
Innerchr4:81136664..81136691hg19UCSC Ensembl
Outerchr4:81136645..81136710hg19UCSC Ensembl
chr4:81355692..81355711hg18UCSC Ensembl
Innerchr4:81355715..81355688hg18UCSC Ensembl
Outerchr4:81355669..81355734hg18UCSC Ensembl
Cytoband4q21.21
Allele length
AssemblyAllele length
hg38300
hg19300
hg18300
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3445878
Supporting Variants
SamplesNA12287
Known Genes
MethodSequencing
Analysis
Platform454
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv9616512
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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