A curated catalogue of human genomic structural variation




Variant Details

Variant: essv15842496



Internal ID6101223
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:37197432..37220861hg38UCSC Ensembl
chr18:34777395..34800824hg19UCSC Ensembl
Cytoband18q12.2
Allele length
AssemblyAllele length
hg3823430
hg1923430
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3642245
Supporting Variants
SamplesNA19475
Known GenesKIAA1328
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv15842496
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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