A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3645913



Internal ID7032661
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:44669119..44681290hg38UCSC Ensembl
Innerchr20:44669176..44681233hg38UCSC Ensembl
Outerchr20:44669062..44681347hg38UCSC Ensembl
chr20:43297760..43309931hg19UCSC Ensembl
Innerchr20:43297817..43309874hg19UCSC Ensembl
Outerchr20:43297703..43309988hg19UCSC Ensembl
Cytoband20q13.12
Allele length
AssemblyAllele length
hg3812172
hg1912172
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv16193961
SamplesHG01849
Known GenesLOC79015
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3645913
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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