A curated catalogue of human genomic structural variation




Variant Details

Variant: essv11854826



Internal ID1856642
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:31134943..31452028hg38UCSC Ensembl
chr5:31135050..31452135hg19UCSC Ensembl
Cytoband5p13.3
Allele length
AssemblyAllele length
hg38317086
hg19317086
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3604572
Supporting Variants
SamplesNA12717
Known GenesCDH6, DROSHA
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv11854826
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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