A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3585012



Internal ID6972537
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:1677771..1684388hg38UCSC Ensembl
chr1:1609210..1615827hg19UCSC Ensembl
Cytoband1p36.33
Allele length
AssemblyAllele length
hg386618
hg196618
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9841047, essv9841050, essv9841066, essv9841049, essv9841054, essv9841045, essv9841046, essv9841055, essv9841069, essv9841070, essv9841058, essv9841052, essv9841064, essv9841068, essv9841056, essv9841061, essv9841063, essv9841057, essv9841048, essv9841059, essv9841062, essv9841067, essv9841051, essv9841065, essv9841053, essv9841060
SamplesNA11995, HG00766, HG00641, HG02087, NA19723, HG03885, NA18582, NA20819, HG02224, HG02190, HG01810, NA18566, NA20866, HG01812, NA18542, HG03833, HG02010, HG01878, HG01551, HG00237, HG00116, HG01801, HG00614, HG01577, HG02052, NA18957
Known GenesCDK11B, SLC35E2B
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3585012
Frequency
Sample Size2504
Observed Gain26
Observed Loss0
Observed Complex0
Frequencyn/a


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