A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2665476



Internal ID9584895
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:50303485..50310991hg38UCSC Ensembl
Outerchr3:50303114..50311361hg38UCSC Ensembl
Innerchr3:50340916..50348422hg19UCSC Ensembl
Outerchr3:50340545..50348792hg19UCSC Ensembl
Cytoband3p21.31
Allele length
AssemblyAllele length
hg388248
hg198248
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5716890, essv6151269, essv6421222, essv6583636, essv5979170, essv6267435, essv5886075, essv6058575, essv6579220, essv6385783, essv6381708, essv6114285, essv5698061, essv5793868, essv6477033, essv6131831
SamplesNA19355, NA19443, NA19374, NA19373, NA19384, NA19455, NA19461, NA19449, NA19452, NA19436, NA19440, NA19434, NA19438, NA19472, NA19468, NA19312
Known GenesHYAL1
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2665476
Frequency
Sample Size1151
Observed Gain0
Observed Loss16
Observed Complex0
Frequencyn/a


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