A curated catalogue of human genomic structural variation




Variant Details

Variant: essv11351126



Internal ID1352942
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:9651137..10489676hg38UCSC Ensembl
Innerchr4:9651287..10489526hg38UCSC Ensembl
Outerchr4:9650987..10489826hg38UCSC Ensembl
chr4:9652761..10491300hg19UCSC Ensembl
Innerchr4:9652911..10491150hg19UCSC Ensembl
Outerchr4:9652611..10491450hg19UCSC Ensembl
Cytoband4p16.1
Allele length
AssemblyAllele length
hg38838540
hg19838540
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3599589
Supporting Variants
SamplesHG03965
Known GenesDRD5, MIR3138, SLC2A9, WDR1, ZNF518B
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv11351126
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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