A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3585011



Internal ID6972536
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:1677771..1684388hg38UCSC Ensembl
chr1:1609210..1615827hg19UCSC Ensembl
Cytoband1p36.33
Allele length
AssemblyAllele length
hg386618
hg196618
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9841038, essv9841029, essv9841032, essv9841037, essv9841041, essv9841035, essv9841036, essv9841040, essv9841034, essv9841028, essv9841043, essv9841031, essv9841033, essv9841042, essv9841044, essv9841039, essv9841030
SamplesHG01441, HG03052, HG01855, HG01806, NA18635, HG03224, NA20340, HG02236, HG02057, NA19327, HG01845, HG01889, HG03634, HG02399, HG03279, HG02938, HG03611
Known GenesCDK11B, SLC35E2B
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3585011
Frequency
Sample Size2504
Observed Gain0
Observed Loss17
Observed Complex0
Frequencyn/a


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