A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3646145



Internal ID7032890
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:54788947..54803603hg38UCSC Ensembl
Innerchr20:54789097..54803453hg38UCSC Ensembl
Outerchr20:54788797..54803753hg38UCSC Ensembl
chr20:53405486..53420142hg19UCSC Ensembl
Innerchr20:53405636..53419992hg19UCSC Ensembl
Outerchr20:53405336..53420292hg19UCSC Ensembl
Cytoband20q13.2
Allele length
AssemblyAllele length
hg3814657
hg1914657
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv16207729, essv16207725, essv16207743, essv16207744, essv16207741, essv16207736, essv16207733, essv16207738, essv16207734, essv16207737, essv16207723, essv16207731, essv16207742, essv16207732, essv16207726, essv16207740, essv16207728, essv16207735, essv16207739, essv16207724, essv16207727, essv16207730
SamplesHG01413, HG01250, HG01366, HG01488, HG01459, HG02278, HG01973, HG01932, HG02253, HG01938, HG01498, HG01390, NA18566, HG01954, NA19735, NA19747, HG01577, HG01491, HG01920, HG01191, HG01578, HG01926
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3646145
Frequency
Sample Size2504
Observed Gain0
Observed Loss22
Observed Complex0
Frequencyn/a


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