A curated catalogue of human genomic structural variation




Variant Details

Variant: essv3593011



Internal ID11822171
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:150953986..150953986hg38UCSC Ensembl
chr4:151875138..151875138hg19UCSC Ensembl
chr4:152094588..152094588hg18UCSC Ensembl
Cytoband4q31.3
Allele length
AssemblyAllele length
hg3880
hg1980
hg1880
Variant TypeCNV insertion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv1685814
Supporting Variants
SamplesHuRef
Known GenesLRBA
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferenceLevy_et_al_2007
Pubmed ID17803354
Accession Number(s)essv3593011
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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