A curated catalogue of human genomic structural variation




Variant Details

Variant: essv3793804



Internal ID11621381
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:1095412..1095707hg38UCSC Ensembl
chr4:1089200..1089495hg19UCSC Ensembl
chr4:1079200..1079495hg18UCSC Ensembl
Cytoband4p16.3
Allele length
AssemblyAllele length
hg38296
hg19296
hg18296
Variant TypeCNV deletion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv1703084
Supporting Variants
SamplesHuRef
Known GenesRNF212
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferenceLevy_et_al_2007
Pubmed ID17803354
Accession Number(s)essv3793804
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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