A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3415385



Internal ID15262344
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:61142526..61142545hg38UCSC Ensembl
Innerchr20:61142522..61142549hg38UCSC Ensembl
Outerchr20:61142503..61142568hg38UCSC Ensembl
chr20:59717582..59717601hg19UCSC Ensembl
Innerchr20:59717578..59717605hg19UCSC Ensembl
Outerchr20:59717559..59717624hg19UCSC Ensembl
chr20:59150977..59150996hg18UCSC Ensembl
Innerchr20:59151000..59150973hg18UCSC Ensembl
Outerchr20:59150954..59151019hg18UCSC Ensembl
Cytoband20q13.33
Allele length
AssemblyAllele length
hg38300
hg19300
hg18300
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9679491
SamplesNA12873
Known Genes
MethodSequencing
Analysis
Platform454
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3415385
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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