A curated catalogue of human genomic structural variation




Variant Details

Variant: essv4193767



Internal ID11476305
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:45501170..45501170hg38UCSC Ensembl
chr3:45542662..45542662hg19UCSC Ensembl
chr3:45517666..45517666hg18UCSC Ensembl
Cytoband3p21.31
Allele length
AssemblyAllele length
hg38319
hg19319
hg18319
Variant TypeCNV insertion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv1659959
Supporting Variants
SamplesHuRef
Known GenesLARS2, LARS2-AS1
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferenceLevy_et_al_2007
Pubmed ID17803354
Accession Number(s)essv4193767
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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