A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2660870



Internal ID9926975
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:169564668..169576353hg38UCSC Ensembl
Outerchr2:169564511..169576506hg38UCSC Ensembl
Innerchr2:170421178..170432863hg19UCSC Ensembl
Outerchr2:170421021..170433016hg19UCSC Ensembl
Cytoband2q31.1
Allele length
AssemblyAllele length
hg3811996
hg1911996
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6367544
SamplesHG00442
Known GenesFASTKD1
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2660870
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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