A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14688583



Internal ID4903216
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:35692728..35696800hg38UCSC Ensembl
Innerchr13:35692728..35696800hg38UCSC Ensembl
Outerchr13:35692641..35697051hg38UCSC Ensembl
chr13:36266865..36270937hg19UCSC Ensembl
Innerchr13:36266865..36270937hg19UCSC Ensembl
Outerchr13:36266778..36271188hg19UCSC Ensembl
Cytoband13q13.3
Allele length
AssemblyAllele length
hg384073
hg194073
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3631767
Supporting Variants
SamplesNA12717
Known GenesMIR548F5
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14688583
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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