A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2662509



Internal ID9928614
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:174003125..174007127hg38UCSC Ensembl
chr1:173972263..173976265hg19UCSC Ensembl
Cytoband1q25.1
Allele length
AssemblyAllele length
hg384003
hg194003
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6231684
SamplesNA19004
Known Genes
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2662509
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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