A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2673210



Internal ID9939315
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:220263031..220267543hg38UCSC Ensembl
chr1:220436373..220440885hg19UCSC Ensembl
Cytoband1q41
Allele length
AssemblyAllele length
hg384513
hg194513
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6240282, essv5407699, essv6190945, essv6021763, essv5914549, essv5626371, essv6190464, essv5893868, essv5408114, essv6178588, essv6291678, essv6311387, essv6173755, essv6179178, essv5635912, essv6156144, essv5969121, essv5798256, essv6512116, essv6525922, essv6340845, essv6375028, essv6164108, essv5823322, essv6531101, essv6053438, essv6092186, essv6338893, essv5841923, essv6088957, essv5585718, essv5656925, essv6321357, essv6370001, essv6185768
SamplesHG00650, HG00559, NA18980, NA18599, HG00699, NA19068, NA18595, NA18635, NA18558, NA18574, HG00534, NA19075, NA19002, NA18557, NA18538, HG00577, HG00584, HG00533, NA18566, HG00684, NA19059, NA18555, NA18541, NA18632, NA18533, NA18559, NA19749, HG00662, NA19078, HG00707, NA19060, NA19080, HG00472, HG00628, NA18612
Known GenesAURKAPS1, RAB3GAP2
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2673210
Frequency
Sample Size1151
Observed Gain0
Observed Loss35
Observed Complex0
Frequencyn/a


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