A curated catalogue of human genomic structural variation




Variant Details

Variant: essv11882287



Internal ID1884103
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:42501219..42624734hg38UCSC Ensembl
chr5:42501321..42624836hg19UCSC Ensembl
Cytoband5p12
Allele length
AssemblyAllele length
hg38123516
hg19123516
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3604870
Supporting Variants
SamplesNA12717
Known GenesGHR
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv11882287
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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