A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3645296



Internal ID7032046
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:13925906..13930532hg38UCSC Ensembl
Innerchr20:13925939..13930500hg38UCSC Ensembl
Outerchr20:13925874..13930565hg38UCSC Ensembl
chr20:13906552..13911178hg19UCSC Ensembl
Innerchr20:13906585..13911146hg19UCSC Ensembl
Outerchr20:13906520..13911211hg19UCSC Ensembl
Cytoband20p12.1
Allele length
AssemblyAllele length
hg384627
hg194627
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv16144132
SamplesHG00628
Known GenesSEL1L2
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3645296
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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