A curated catalogue of human genomic structural variation




Variant Details

Variant: essv11516780



Internal ID1198615
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:80377603..80385091hg38UCSC Ensembl
Innerchr4:80378103..80384591hg38UCSC Ensembl
Outerchr4:80376603..80386091hg38UCSC Ensembl
chr4:81298757..81306245hg19UCSC Ensembl
Innerchr4:81299257..81305745hg19UCSC Ensembl
Outerchr4:81297757..81307245hg19UCSC Ensembl
Cytoband4q21.21
Allele length
AssemblyAllele length
hg387489
hg197489
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3601136
Supporting Variants
SamplesHG01070
Known GenesC4orf22
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv11516780
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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