A curated catalogue of human genomic structural variation




Variant Details

Variant: essv11424964



Internal ID6211846
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:46884571..46889368hg38UCSC Ensembl
Innerchr4:46884571..46889368hg38UCSC Ensembl
Outerchr4:46884071..46889868hg38UCSC Ensembl
chr4:46886588..46891385hg19UCSC Ensembl
Innerchr4:46886588..46891385hg19UCSC Ensembl
Outerchr4:46886088..46891885hg19UCSC Ensembl
Cytoband4p12
Allele length
AssemblyAllele length
hg384798
hg194798
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3600440
Supporting Variants
SamplesNA19740
Known GenesCOX7B2
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv11424964
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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