A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3632103



Internal ID7018913
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:52601435..52636346hg38UCSC Ensembl
Innerchr13:52601435..52636346hg38UCSC Ensembl
Outerchr13:52600935..52636846hg38UCSC Ensembl
chr13:53175570..53210481hg19UCSC Ensembl
Innerchr13:53175570..53210481hg19UCSC Ensembl
Outerchr13:53175070..53210981hg19UCSC Ensembl
Cytoband13q14.3
Allele length
AssemblyAllele length
hg3834912
hg1934912
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv14732337
SamplesNA20845
Known GenesHNRNPA1L2
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3632103
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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