A curated catalogue of human genomic structural variation




Variant Details

Variant: essv4083435



Internal ID11331754
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:113841685..113841826hg38UCSC Ensembl
chr13:114544658..114544799hg19UCSC Ensembl
chr13:113569144..113569285hg18UCSC Ensembl
Cytoband13q34
Allele length
AssemblyAllele length
hg38142
hg19142
hg18142
Variant TypeCNV deletion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv1444149
Supporting Variants
SamplesHuRef
Known GenesGAS6, GAS6-AS1
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferenceLevy_et_al_2007
Pubmed ID17803354
Accession Number(s)essv4083435
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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