A curated catalogue of human genomic structural variation




Variant Details

Variant: essv11863077



Internal ID1864893
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:33947465..34004885hg38UCSC Ensembl
chr5:33947570..34004990hg19UCSC Ensembl
Cytoband5p13.2
Allele length
AssemblyAllele length
hg3857421
hg1957421
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3604666
Supporting Variants
SamplesNA12717
Known GenesAMACR, C1QTNF3-AMACR, SLC45A2
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv11863077
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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