A curated catalogue of human genomic structural variation




Variant Details

Variant: essv11707404



Internal ID659958
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:173488228..173492431hg38UCSC Ensembl
Innerchr4:173488271..173492389hg38UCSC Ensembl
Outerchr4:173488186..173492474hg38UCSC Ensembl
chr4:174409379..174413582hg19UCSC Ensembl
Innerchr4:174409422..174413540hg19UCSC Ensembl
Outerchr4:174409337..174413625hg19UCSC Ensembl
Cytoband4q34.1
Allele length
AssemblyAllele length
hg384204
hg194204
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3603211
Supporting Variants
SamplesHG00306
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv11707404
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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