A curated catalogue of human genomic structural variation




Variant Details

Variant: essv4115708



Internal ID11051561
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:150421142..150421142hg38UCSC Ensembl
chr4:151342294..151342294hg19UCSC Ensembl
chr4:151561744..151561744hg18UCSC Ensembl
Cytoband4q31.3
Allele length
AssemblyAllele length
hg38190
hg19190
hg18190
Variant TypeCNV insertion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv1140586
Supporting Variants
SamplesHuRef
Known GenesLRBA
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferenceLevy_et_al_2007
Pubmed ID17803354
Accession Number(s)essv4115708
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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