A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3642869



Internal ID6682949
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:66414787..66668426hg38UCSC Ensembl
Innerchr18:66414795..66668418hg38UCSC Ensembl
Outerchr18:66414779..66668434hg38UCSC Ensembl
chr18:64082024..64335663hg19UCSC Ensembl
Innerchr18:64082032..64335655hg19UCSC Ensembl
Outerchr18:64082016..64335671hg19UCSC Ensembl
Cytoband18q22.1
Allele length
AssemblyAllele length
hg38253640
hg19253640
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv15916389, essv15916391, essv15916390
SamplesHG00358, HG03061, HG00288
Known GenesCDH19
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3642869
Frequency
Sample Size2504
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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