A curated catalogue of human genomic structural variation




Variant Details

Variant: essv11687992



Internal ID5901793
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:168977100..168979036hg38UCSC Ensembl
Innerchr4:168977100..168979036hg38UCSC Ensembl
Outerchr4:168976941..168979153hg38UCSC Ensembl
chr4:169898251..169900187hg19UCSC Ensembl
Innerchr4:169898251..169900187hg19UCSC Ensembl
Outerchr4:169898092..169900304hg19UCSC Ensembl
Cytoband4q32.3
Allele length
AssemblyAllele length
hg381937
hg191937
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3603112
Supporting Variants
SamplesNA19318
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv11687992
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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