A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3601133



Internal ID6988172
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:80176196..80180505hg38UCSC Ensembl
Innerchr4:80176196..80180505hg38UCSC Ensembl
Outerchr4:80175696..80181005hg38UCSC Ensembl
chr4:81097350..81101659hg19UCSC Ensembl
Innerchr4:81097350..81101659hg19UCSC Ensembl
Outerchr4:81096850..81102159hg19UCSC Ensembl
Cytoband4q21.21
Allele length
AssemblyAllele length
hg384310
hg194310
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv11516679
SamplesHG01623
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3601133
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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