A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2678473



Internal ID9597892
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:80113802..80117963hg38UCSC Ensembl
Outerchr5:80113645..80118116hg38UCSC Ensembl
Innerchr5:79409625..79413786hg19UCSC Ensembl
Outerchr5:79409468..79413939hg19UCSC Ensembl
Cytoband5q14.1
Allele length
AssemblyAllele length
hg384472
hg194472
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6170158, essv5695982
SamplesNA19350, NA19900
Known GenesSERINC5
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2678473
Frequency
Sample Size1151
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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