A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3646045



Internal ID7032790
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:50616909..50618045hg38UCSC Ensembl
Innerchr20:50616950..50618005hg38UCSC Ensembl
Outerchr20:50616869..50618086hg38UCSC Ensembl
chr20:49233446..49234582hg19UCSC Ensembl
Innerchr20:49233487..49234542hg19UCSC Ensembl
Outerchr20:49233406..49234623hg19UCSC Ensembl
Cytoband20q13.13
Allele length
AssemblyAllele length
hg381137
hg191137
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv16199353, essv16199360, essv16199362, essv16199354, essv16199359, essv16199351, essv16199363, essv16199364, essv16199358, essv16199365, essv16199361, essv16199352, essv16199355, essv16199356, essv16199357
SamplesHG02040, HG00654, HG02407, HG02187, HG01851, HG01841, HG00690, NA18974, NA18953, HG00473, HG02367, HG02079, NA18609, NA18623, HG02351
Known GenesFAM65C
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3646045
Frequency
Sample Size2504
Observed Gain0
Observed Loss15
Observed Complex0
Frequencyn/a


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