A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8653384



Internal ID13735454
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:52197976..52197976hg38UCSC Ensembl
Innerchr4:52197975..52197977hg38UCSC Ensembl
Outerchr4:52197926..52198026hg38UCSC Ensembl
chr4:53064142..53064142hg19UCSC Ensembl
Innerchr4:53064141..53064143hg19UCSC Ensembl
Outerchr4:53064092..53064192hg19UCSC Ensembl
chr4:52758899..52758899hg18UCSC Ensembl
Innerchr4:52758900..52758898hg18UCSC Ensembl
Outerchr4:52758849..52758949hg18UCSC Ensembl
Cytoband4q12
Allele length
AssemblyAllele length
hg381010
hg191010
hg181010
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3373548
Supporting Variants
SamplesNA12892
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8653384
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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