A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3641611



Internal ID6681696
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 State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv15780304, essv15780305, essv15780303
SamplesNA20783, HG01518, NA19449
Known GenesDLGAP1, DLGAP1-AS4
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3641611
Frequency
Sample Size2504
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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