A curated catalogue of human genomic structural variation




Variant Details

Variant: essv11427911



Internal ID5256809
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:47610077..47614506hg38UCSC Ensembl
Innerchr4:47610077..47614506hg38UCSC Ensembl
Outerchr4:47609768..47614882hg38UCSC Ensembl
chr4:47612094..47616523hg19UCSC Ensembl
Innerchr4:47612094..47616523hg19UCSC Ensembl
Outerchr4:47611785..47616899hg19UCSC Ensembl
Cytoband4p12
Allele length
AssemblyAllele length
hg384430
hg194430
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3600452
Supporting Variants
SamplesNA18636
Known GenesCORIN
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv11427911
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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