A curated catalogue of human genomic structural variation




Variant Details

Variant: essv11730771



Internal ID4983397
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:182546550..182548888hg38UCSC Ensembl
Innerchr4:182546550..182548888hg38UCSC Ensembl
Outerchr4:182546360..182549146hg38UCSC Ensembl
chr4:183467703..183470041hg19UCSC Ensembl
Innerchr4:183467703..183470041hg19UCSC Ensembl
Outerchr4:183467513..183470299hg19UCSC Ensembl
Cytoband4q35.1
Allele length
AssemblyAllele length
hg382339
hg192339
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3603422
Supporting Variants
SamplesNA18486
Known GenesTENM3
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv11730771
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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