A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3645933



Internal ID6685993
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:45548287..45567209hg38UCSC Ensembl
Innerchr20:45548290..45567206hg38UCSC Ensembl
Outerchr20:45548284..45567212hg38UCSC Ensembl
chr20:44176926..44195848hg19UCSC Ensembl
Innerchr20:44176929..44195845hg19UCSC Ensembl
Outerchr20:44176923..44195851hg19UCSC Ensembl
Cytoband20q13.12
Allele length
AssemblyAllele length
hg3818923
hg1918923
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv16196192
SamplesHG03789
Known GenesWFDC8
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3645933
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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