A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2661058



Internal ID9927163
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:54145693..54149299hg38UCSC Ensembl
Outerchr1:54145322..54149669hg38UCSC Ensembl
Innerchr1:54611366..54614972hg19UCSC Ensembl
Outerchr1:54610995..54615342hg19UCSC Ensembl
Cytoband1p32.3
Allele length
AssemblyAllele length
hg384348
hg194348
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv44e199
Supporting Variantsessv6409338, essv6226034, essv6059915, essv5451387
SamplesNA19916, NA19904, NA20344, NA20281
Known GenesCDCP2
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2661058
Frequency
Sample Size1151
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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