A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8741155



Internal ID15087634
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:182810327..182810327hg38UCSC Ensembl
Innerchr4:182810326..182810328hg38UCSC Ensembl
Outerchr4:182810277..182810377hg38UCSC Ensembl
chr4:183731480..183731480hg19UCSC Ensembl
Innerchr4:183731479..183731481hg19UCSC Ensembl
Outerchr4:183731430..183731530hg19UCSC Ensembl
chr4:183968474..183968474hg18UCSC Ensembl
Innerchr4:183968475..183968473hg18UCSC Ensembl
Outerchr4:183968424..183968524hg18UCSC Ensembl
Cytoband4q35.1
Allele length
AssemblyAllele length
hg38420
hg19420
hg18420
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3448229
Supporting Variants
SamplesNA19240
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8741155
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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