A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv44e199



Internal ID22757817
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:54145322..54149669hg38UCSC Ensembl
chr1:54610995..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 Variants
Supporting Variantsesv2661058, esv2663286
SamplesNA19916, NA19904, NA19172, NA20344, NA19452, HG01108, NA20281, NA19116, NA19430, NA18511
Known GenesCDCP2
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)dgv44e199
Frequency
Sample Size1151
Observed Gain0
Observed Loss10
Observed Complex0
Frequencyn/a


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