A curated catalogue of human genomic structural variation




Variant Details

Variant: essv15780304



Internal ID5782120
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:3982202..3988629hg38UCSC Ensembl
chr18:3982202..3988629hg19UCSC Ensembl
Cytoband18p11.31
Allele length
AssemblyAllele length
hg386428
hg196428
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3641611
Supporting Variants
SamplesNA19449
Known GenesDLGAP1, DLGAP1-AS4
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv15780304
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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