A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3645686



Internal ID7032435
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:33653604..33654781hg38UCSC Ensembl
Innerchr20:33653604..33654781hg38UCSC Ensembl
Outerchr20:33653274..33655127hg38UCSC Ensembl
chr20:32241410..32242587hg19UCSC Ensembl
Innerchr20:32241410..32242587hg19UCSC Ensembl
Outerchr20:32241080..32242933hg19UCSC Ensembl
Cytoband20q11.22
Allele length
AssemblyAllele length
hg381178
hg191178
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv16175555, essv16175556, essv16175560, essv16175559, essv16175561, essv16175551, essv16175563, essv16175549, essv16175552, essv16175553, essv16175550, essv16175557, essv16175554, essv16175558, essv16175562, essv16175548
SamplesHG00592, HG00337, HG00271, HG00272, NA20889, NA19007, HG00188, NA18951, HG02390, NA18626, NA19059, NA18536, NA18608, NA18992, NA18987, NA19661
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3645686
Frequency
Sample Size2504
Observed Gain0
Observed Loss16
Observed Complex0
Frequencyn/a


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