A curated catalogue of human genomic structural variation




Variant Details

Variant: essv4321084



Internal ID11256936
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:113842027..113842027hg38UCSC Ensembl
chr13:114545000..114545000hg19UCSC Ensembl
chr13:113568943..113568943hg18UCSC Ensembl
Cytoband13q34
Allele length
AssemblyAllele length
hg38142
hg19142
hg18142
Variant TypeCNV insertion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv1443107
Supporting Variants
SamplesHuRef
Known GenesGAS6, GAS6-AS1
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferenceLevy_et_al_2007
Pubmed ID17803354
Accession Number(s)essv4321084
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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