A curated catalogue of human genomic structural variation




Variant Details

Variant: essv11794583



Internal ID397509
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:4971826..5073063hg38UCSC Ensembl
chr5:4971939..5073176hg19UCSC Ensembl
Cytoband5p15.32
Allele length
AssemblyAllele length
hg38101238
hg19101238
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3603886
Supporting Variants
SamplesHG00117
Known GenesLINC01020
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv11794583
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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