A curated catalogue of human genomic structural variation




Variant Details

Variant: essv11682503



Internal ID1222108
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:166187743..166192760hg38UCSC Ensembl
Innerchr4:166187774..166192730hg38UCSC Ensembl
Outerchr4:166187713..166192791hg38UCSC Ensembl
chr4:167108895..167113912hg19UCSC Ensembl
Innerchr4:167108926..167113882hg19UCSC Ensembl
Outerchr4:167108865..167113943hg19UCSC Ensembl
Cytoband4q32.3
Allele length
AssemblyAllele length
hg385018
hg195018
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3603034
Supporting Variants
SamplesHG01085
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv11682503
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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