A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3646043



Internal ID7032788
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:50374635..50382530hg38UCSC Ensembl
Innerchr20:50374651..50382515hg38UCSC Ensembl
Outerchr20:50374620..50382546hg38UCSC Ensembl
chr20:48991172..48999067hg19UCSC Ensembl
Innerchr20:48991188..48999052hg19UCSC Ensembl
Outerchr20:48991157..48999083hg19UCSC Ensembl
Cytoband20q13.13
Allele length
AssemblyAllele length
hg387896
hg197896
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv16199349
SamplesHG01680
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3646043
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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