A curated catalogue of human genomic structural variation




Variant Details

Variant: essv11509672



Internal ID1511488
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:77529554..77536517hg38UCSC Ensembl
Innerchr4:77529567..77536504hg38UCSC Ensembl
Outerchr4:77529541..77536530hg38UCSC Ensembl
chr4:78450708..78457671hg19UCSC Ensembl
Innerchr4:78450721..78457658hg19UCSC Ensembl
Outerchr4:78450695..78457684hg19UCSC Ensembl
Cytoband4q21.1
Allele length
AssemblyAllele length
hg386964
hg196964
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3601076
Supporting Variants
SamplesHG03006
Known GenesCXCL13
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv11509672
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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