A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6275590



Internal ID9252993
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr20:21506278..21515584hg38UCSC Ensembl
Outerchr20:21505907..21515954hg38UCSC Ensembl
Innerchr20:21486916..21496222hg19UCSC Ensembl
Outerchr20:21486545..21496592hg19UCSC Ensembl
Cytoband20p11.22
Allele length
AssemblyAllele length
hg3810048
hg1910048
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag0
Merged StatusS
Merged Variantsesv2659363
Supporting Variants
SamplesHG00478
Known GenesNKX2-2
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)essv6275590
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer