A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2669009



Internal ID9588428
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:44555589..44556676hg38UCSC Ensembl
chr1:45021261..45022348hg19UCSC Ensembl
Cytoband1p34.1
Allele length
AssemblyAllele length
hg381088
hg191088
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv41e199
Supporting Variantsessv6277695, essv6385674, essv5434897, essv6587233, essv6175778, essv5828295, essv6418045, essv6324733, essv5541500, essv6243092, essv5660044, essv6207691, essv5467598, essv5467247, essv5893127, essv6016893, essv6419209, essv5636649, essv6159917, essv5775139, essv6431504, essv5680049, essv5472700, essv6523597
SamplesNA18592, NA18508, NA18545, NA18940, NA18550, NA19201, NA19131, NA18942, NA18571, NA19207, NA19172, NA19239, NA18975, NA19200, NA19114, NA18499, NA18856, NA18912, NA18853, NA19225, NA18961, NA18517, NA19129, NA12006
Known GenesRNF220
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2669009
Frequency
Sample Size1151
Observed Gain0
Observed Loss24
Observed Complex0
Frequencyn/a


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