A curated catalogue of human genomic structural variation




Variant Details

Variant: esv1084601



Internal ID5214708
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:148366480..148366480hg38UCSC Ensembl
chr4:149287632..149287632hg19UCSC Ensembl
chr4:149507082..149507082hg18UCSC Ensembl
Cytoband4q31.23
Allele length
AssemblyAllele length
hg3860
hg1960
hg1860
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv4188454
SamplesHuRef
Known GenesNR3C2
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferenceLevy_et_al_2007
Pubmed ID17803354
Accession Number(s)esv1084601
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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