A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14897788



Internal ID5752188
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:110473212..110474162hg38UCSC Ensembl
Innerchr13:110473262..110474112hg38UCSC Ensembl
Outerchr13:110473112..110474262hg38UCSC Ensembl
chr13:111125559..111126509hg19UCSC Ensembl
Innerchr13:111125609..111126459hg19UCSC Ensembl
Outerchr13:111125459..111126609hg19UCSC Ensembl
Cytoband13q34
Allele length
AssemblyAllele length
hg38951
hg19951
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3633545
Supporting Variants
SamplesNA19121
Known GenesCOL4A2
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14897788
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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