A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14688371



Internal ID4690187
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:34990077..34995045hg38UCSC Ensembl
Innerchr13:34990091..34995032hg38UCSC Ensembl
Outerchr13:34990064..34995059hg38UCSC Ensembl
chr13:35564214..35569182hg19UCSC Ensembl
Innerchr13:35564228..35569169hg19UCSC Ensembl
Outerchr13:35564201..35569196hg19UCSC Ensembl
Cytoband13q13.3
Allele length
AssemblyAllele length
hg384969
hg194969
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3631758
Supporting Variants
SamplesNA19075
Known GenesNBEA
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14688371
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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