A curated catalogue of human genomic structural variation




Variant Details

Variant: essv11884471



Internal ID1886287
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:43496304..43611596hg38UCSC Ensembl
chr5:43496406..43611698hg19UCSC Ensembl
Cytoband5p12
Allele length
AssemblyAllele length
hg38115293
hg19115293
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3604904
Supporting Variants
SamplesNA12717
Known GenesC5orf34, NNT, NNT-AS1, PAIP1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv11884471
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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