A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2676361



Internal ID9942466
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:175153480..175153708hg38UCSC Ensembl
chr1:175122616..175122844hg19UCSC Ensembl
Cytoband1q25.1
Allele length
AssemblyAllele length
hg38229
hg19229
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5489185, essv6068638
SamplesNA19355, NA19197
Known Genes
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2676361
Frequency
Sample Size1151
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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