A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2666971



Internal ID9933076
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:173425613..173428233hg38UCSC Ensembl
Outerchr1:173425456..173428386hg38UCSC Ensembl
Innerchr1:173394752..173397372hg19UCSC Ensembl
Outerchr1:173394595..173397525hg19UCSC Ensembl
Cytoband1q25.1
Allele length
AssemblyAllele length
hg382931
hg192931
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5998161
SamplesNA19469
Known GenesLOC100506023
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2666971
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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