A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3595563



Internal ID6982881
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:23472496..23477158hg38UCSC Ensembl
Innerchr3:23472501..23477154hg38UCSC Ensembl
Outerchr3:23472492..23477163hg38UCSC Ensembl
chr3:23513987..23518649hg19UCSC Ensembl
Innerchr3:23513992..23518645hg19UCSC Ensembl
Outerchr3:23513983..23518654hg19UCSC Ensembl
Cytoband3p24.3
Allele length
AssemblyAllele length
hg384663
hg194663
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10949103, essv10949089, essv10949093, essv10949096, essv10949085, essv10949102, essv10949083, essv10949087, essv10949095, essv10949091, essv10949088, essv10949101, essv10949104, essv10949090, essv10949094, essv10949086, essv10949098, essv10949092, essv10949100, essv10949099, essv10949084, essv10949097
SamplesHG02944, HG02496, NA18861, HG03297, NA19107, NA19374, NA19315, NA18864, HG03120, HG03301, NA19118, NA18523, NA19095, HG01988, NA18858, HG02308, HG03117, NA19331, HG03157, HG01914, NA18511, HG03303
Known GenesMIR548AC, UBE2E2
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3595563
Frequency
Sample Size2504
Observed Gain0
Observed Loss22
Observed Complex0
Frequencyn/a


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