A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2675031



Internal ID9941136
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:108190703..108193181hg38UCSC Ensembl
Innerchr1:108733325..108735803hg19UCSC Ensembl
Cytoband1p13.3
Allele length
AssemblyAllele length
hg382479
hg192479
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6563833, essv5917334, essv6581409, essv5759185, essv5978579
SamplesNA18563, NA12878, NA18566, NA18593, NA12154
Known GenesSLC25A24
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2675031
Frequency
Sample Size1151
Observed Gain0
Observed Loss5
Observed Complex0
Frequencyn/a


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