A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14890308



Internal ID4332337
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:106527252..106532742hg38UCSC Ensembl
chr13:107179600..107185090hg19UCSC Ensembl
Cytoband13q33.3
Allele length
AssemblyAllele length
hg385491
hg195491
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3633467
Supporting Variants
SamplesHG03873
Known GenesEFNB2
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14890308
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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