A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3642886



Internal ID7029655
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:67010782..67131458hg38UCSC Ensembl
Innerchr18:67010784..67131456hg38UCSC Ensembl
Outerchr18:67010780..67131460hg38UCSC Ensembl
chr18:64678019..64798695hg19UCSC Ensembl
Innerchr18:64678021..64798693hg19UCSC Ensembl
Outerchr18:64678017..64798697hg19UCSC Ensembl
Cytoband18q22.1
Allele length
AssemblyAllele length
hg38120677
hg19120677
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv15917538, essv15917537, essv15917539
SamplesHG03616, HG03061, HG04141
Known GenesMIR5011
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3642886
Frequency
Sample Size2504
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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