A curated catalogue of human genomic structural variation




Variant Details

Variant: essv11642250



Internal ID3761187
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:145980668..145983207hg38UCSC Ensembl
Innerchr4:145980668..145983207hg38UCSC Ensembl
Outerchr4:145980367..145983503hg38UCSC Ensembl
chr4:146901820..146904359hg19UCSC Ensembl
Innerchr4:146901820..146904359hg19UCSC Ensembl
Outerchr4:146901519..146904655hg19UCSC Ensembl
Cytoband4q31.22
Allele length
AssemblyAllele length
hg382540
hg192540
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3602568
Supporting Variants
SamplesHG03391
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv11642250
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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