A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2670974



Internal ID9937079
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:148845187..148845698hg38UCSC Ensembl
chr5:148224750..148225261hg19UCSC Ensembl
Cytoband5q32
Allele length
AssemblyAllele length
hg38512
hg19512
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5688799, essv6095855, essv6481773, essv5563022, essv6403382, essv5620362, essv6138570, essv6406624, essv5765666, essv5729050, essv6423535
SamplesHG00403, NA19057, NA19081, NA18572, NA19064, HG00404, HG00375, HG00343, NA18984, HG00472, NA18623
Known Genes
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2670974
Frequency
Sample Size1151
Observed Gain0
Observed Loss11
Observed Complex0
Frequencyn/a


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