A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3645750



Internal ID6685811
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:37049310..37196647hg38UCSC Ensembl
Innerchr20:37049460..37196497hg38UCSC Ensembl
Outerchr20:37049160..37196797hg38UCSC Ensembl
chr20:35677713..35825050hg19UCSC Ensembl
Innerchr20:35677863..35824900hg19UCSC Ensembl
Outerchr20:35677563..35825200hg19UCSC Ensembl
Cytoband20q11.23
Allele length
AssemblyAllele length
hg38147338
hg19147338
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv16179919
SamplesHG00277
Known GenesMROH8, RBL1, RPN2
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3645750
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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