A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3645152



Internal ID7031903
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:7867561..7869040hg38UCSC Ensembl
Innerchr20:7867562..7869039hg38UCSC Ensembl
Outerchr20:7867560..7869041hg38UCSC Ensembl
chr20:7848208..7849687hg19UCSC Ensembl
Innerchr20:7848209..7849686hg19UCSC Ensembl
Outerchr20:7848207..7849688hg19UCSC Ensembl
Cytoband20p12.3
Allele length
AssemblyAllele length
hg381480
hg191480
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv16133921, essv16133929, essv16133922, essv16133927, essv16133919, essv16133933, essv16133928, essv16133926, essv16133925, essv16133930, essv16133931, essv16133923, essv16133924, essv16133932, essv16133920
SamplesHG02628, HG02891, HG03436, HG03452, HG02541, HG03479, HG02562, NA18934, HG03397, HG03391, HG02896, NA19712, NA19117, HG02646, HG03060
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3645152
Frequency
Sample Size2504
Observed Gain0
Observed Loss15
Observed Complex0
Frequencyn/a


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