A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3645664



Internal ID6685726
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:32375726..32377830hg38UCSC Ensembl
Innerchr20:32375741..32377815hg38UCSC Ensembl
Outerchr20:32375711..32377845hg38UCSC Ensembl
chr20:30963529..30965633hg19UCSC Ensembl
Innerchr20:30963544..30965618hg19UCSC Ensembl
Outerchr20:30963514..30965648hg19UCSC Ensembl
Cytoband20q11.21
Allele length
AssemblyAllele length
hg382105
hg192105
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv16173747, essv16173749, essv16173744, essv16173748, essv16173752, essv16173753, essv16173751, essv16173755, essv16173743, essv16173745, essv16173750, essv16173754, essv16173746
SamplesNA20853, NA21111, HG04076, HG02734, HG03837, NA20850, HG03793, HG03945, HG04019, HG04180, HG03740, HG02684, NA21090
Known GenesASXL1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3645664
Frequency
Sample Size2504
Observed Gain0
Observed Loss13
Observed Complex0
Frequencyn/a


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