A curated catalogue of human genomic structural variation




Variant Details

Variant: essv11676689



Internal ID6827966
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:164156570..164161944hg38UCSC Ensembl
Innerchr4:164156570..164161944hg38UCSC Ensembl
Outerchr4:164156070..164162444hg38UCSC Ensembl
chr4:165077722..165083096hg19UCSC Ensembl
Innerchr4:165077722..165083096hg19UCSC Ensembl
Outerchr4:165077222..165083596hg19UCSC Ensembl
Cytoband4q32.3
Allele length
AssemblyAllele length
hg385375
hg195375
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3602985
Supporting Variants
SamplesNA20902
Known GenesMARCH1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv11676689
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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