A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2665375



Internal ID9584794
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr20:48125465..48503442hg38UCSC Ensembl
Outerchr20:48125424..48515192hg38UCSC Ensembl
Innerchr20:46754208..47131688hg19UCSC Ensembl
Outerchr20:46754167..47131730hg19UCSC Ensembl
Cytoband20q13.13
Allele length
AssemblyAllele length
hg38389769
hg19377564
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv792e199
Supporting Variantsessv6513910, essv5917595, essv5470833, essv6037081, essv5409273, essv6253226, essv5833962, essv5842799, essv6401980, essv6138454, essv5814045, essv6498057, essv6006205
SamplesHG00442, NA18592, NA18603, NA20771, NA18595, NA18582, NA20768, HG00335, NA12003, NA18853, NA18546, NA19346, NA18622
Known GenesLINC00494
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2665375
Frequency
Sample Size1151
Observed Gain0
Observed Loss13
Observed Complex0
Frequencyn/a


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