A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3645841



Internal ID6685902
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:41595482..42142978hg38UCSC Ensembl
Innerchr20:41595632..42142828hg38UCSC Ensembl
Outerchr20:41595332..42143128hg38UCSC Ensembl
chr20:40224121..40771618hg19UCSC Ensembl
Innerchr20:40224271..40771468hg19UCSC Ensembl
Outerchr20:40223971..40771768hg19UCSC Ensembl
Cytoband20q12
Allele length
AssemblyAllele length
hg38547497
hg19547498
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv16187759
SamplesHG02053
Known GenesCHD6, PTPRT
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3645841
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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