A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3632814



Internal ID6672938
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:79199135..79520919hg38UCSC Ensembl
Innerchr13:79199285..79520769hg38UCSC Ensembl
Outerchr13:79198985..79521069hg38UCSC Ensembl
chr13:79773270..80095054hg19UCSC Ensembl
Innerchr13:79773420..80094904hg19UCSC Ensembl
Outerchr13:79773120..80095204hg19UCSC Ensembl
Cytoband13q31.1
Allele length
AssemblyAllele length
hg38321785
hg19321785
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv14812320
SamplesHG03746
Known GenesNDFIP2, NDFIP2-AS1, RBM26, RBM26-AS1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3632814
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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