A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14909518



Internal ID4911334
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:113808937..113835264hg38UCSC Ensembl
chr13:114511910..114538237hg19UCSC Ensembl
Cytoband13q34
Allele length
AssemblyAllele length
hg3826328
hg1926328
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3633621
Supporting Variants
SamplesHG00634
Known GenesGAS6, GAS6-AS1, TMEM255B
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14909518
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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