A curated catalogue of human genomic structural variation




Variant Details

Variant: essv11521915



Internal ID3199102
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:85166985..85171693hg38UCSC Ensembl
Innerchr4:85167485..85171193hg38UCSC Ensembl
Outerchr4:85165985..85172693hg38UCSC Ensembl
chr4:86088138..86092846hg19UCSC Ensembl
Innerchr4:86088638..86092346hg19UCSC Ensembl
Outerchr4:86087138..86093846hg19UCSC Ensembl
Cytoband4q21.23
Allele length
AssemblyAllele length
hg384709
hg194709
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3601234
Supporting Variants
SamplesHG02810
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv11521915
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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