A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3642364



Internal ID7029134
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:42768789..42772481hg38UCSC Ensembl
Innerchr18:42768805..42772465hg38UCSC Ensembl
Outerchr18:42768773..42772497hg38UCSC Ensembl
chr18:40348754..40352446hg19UCSC Ensembl
Innerchr18:40348770..40352430hg19UCSC Ensembl
Outerchr18:40348738..40352462hg19UCSC Ensembl
Cytoband18q12.3
Allele length
AssemblyAllele length
hg383693
hg193693
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv15856317, essv15856318
SamplesHG01275, HG00378
Known GenesRIT2
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3642364
Frequency
Sample Size2504
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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