A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3646001



Internal ID6686061
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:48758763..48761256hg38UCSC Ensembl
Innerchr20:48758763..48761256hg38UCSC Ensembl
Outerchr20:48758442..48761496hg38UCSC Ensembl
chr20:47375300..47377793hg19UCSC Ensembl
Innerchr20:47375300..47377793hg19UCSC Ensembl
Outerchr20:47374979..47378033hg19UCSC Ensembl
Cytoband20q13.13
Allele length
AssemblyAllele length
hg382494
hg192494
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv16198728, essv16198733, essv16198735, essv16198729, essv16198736, essv16198730, essv16198734, essv16198731, essv16198732, essv16198727
SamplesNA11918, HG01432, HG00111, HG00353, HG00256, HG01948, NA12778, NA20790, HG01630, HG01479
Known GenesPREX1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3646001
Frequency
Sample Size2504
Observed Gain0
Observed Loss10
Observed Complex0
Frequencyn/a


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