A curated catalogue of human genomic structural variation




Variant Details

Variant: essv11379171



Internal ID1149822
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:28807547..28822869hg38UCSC Ensembl
Innerchr4:28808047..28822369hg38UCSC Ensembl
Outerchr4:28806547..28823869hg38UCSC Ensembl
chr4:28809169..28824491hg19UCSC Ensembl
Innerchr4:28809669..28823991hg19UCSC Ensembl
Outerchr4:28808169..28825491hg19UCSC Ensembl
Cytoband4p15.1
Allele length
AssemblyAllele length
hg3815323
hg1915323
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3600027
Supporting Variants
SamplesHG01028
Known GenesMIR4275
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv11379171
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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