A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2657538



Internal ID9923643
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:2712601..2715236hg38UCSC Ensembl
chr5:2712715..2715350hg19UCSC Ensembl
Cytoband5p15.33
Allele length
AssemblyAllele length
hg382636
hg192636
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5407255, essv6584968, essv5652662, essv5431034, essv5432358, essv5878424, essv6094571, essv5981765, essv6043773, essv6287181
SamplesNA19466, NA19374, NA19373, NA19457, NA20287, NA18520, NA19437, NA19462, HG00734, NA19223
Known Genes
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2657538
Frequency
Sample Size1151
Observed Gain0
Observed Loss10
Observed Complex0
Frequencyn/a


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