A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3308215



Internal ID15155163
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:124630621..124630622hg38UCSC Ensembl
Innerchr4:124630561..124630682hg38UCSC Ensembl
Outerchr4:124630560..124630683hg38UCSC Ensembl
chr4:125551776..125551777hg19UCSC Ensembl
Innerchr4:125551716..125551837hg19UCSC Ensembl
Outerchr4:125551715..125551838hg19UCSC Ensembl
chr4:125771226..125771227hg18UCSC Ensembl
Innerchr4:125771287..125771166hg18UCSC Ensembl
Outerchr4:125771165..125771288hg18UCSC Ensembl
Cytoband4q28.1
Allele length
AssemblyAllele length
hg38176
hg19176
hg18176
Variant TypeCNV mobile element insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7837747
SamplesNA12892
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3308215
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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