A curated catalogue of human genomic structural variation




Variant Details

Variant: essv4071082



Internal ID11690792
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:183723283..183723283hg38UCSC Ensembl
chr4:184644436..184644436hg19UCSC Ensembl
chr4:184881430..184881430hg18UCSC Ensembl
Cytoband4q35.1
Allele length
AssemblyAllele length
hg3872
hg1972
hg1872
Variant TypeCNV insertion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv1034233
Supporting Variants
SamplesHuRef
Known Genes
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferenceLevy_et_al_2007
Pubmed ID17803354
Accession Number(s)essv4071082
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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