A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3623258



Internal ID7010115
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:52766742..52769477hg38UCSC Ensembl
Innerchr10:52766744..52769475hg38UCSC Ensembl
Outerchr10:52766740..52769479hg38UCSC Ensembl
chr10:54526502..54529237hg19UCSC Ensembl
Innerchr10:54526504..54529235hg19UCSC Ensembl
Outerchr10:54526500..54529239hg19UCSC Ensembl
Cytoband10q21.1
Allele length
AssemblyAllele length
hg382736
hg192736
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv13810929, essv13810909, essv13810930, essv13810910, essv13810927, essv13810917, essv13810920, essv13810923, essv13810926, essv13810914, essv13810913, essv13810912, essv13810904, essv13810928, essv13810924, essv13810922, essv13810918, essv13810921, essv13810919, essv13810911, essv13810915, essv13810916, essv13810908, essv13810906, essv13810905, essv13810907, essv13810925
SamplesNA18502, NA18508, HG01602, NA18504, HG03297, HG03193, HG02952, HG01945, HG02315, NA19917, NA19247, HG02108, HG01077, HG02508, HG02968, NA18630, HG02976, HG02757, HG02557, HG03437, NA20351, HG02941, NA19759, NA19213, HG01883, HG02284, HG02343
Known GenesMBL2
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3623258
Frequency
Sample Size2504
Observed Gain0
Observed Loss27
Observed Complex0
Frequencyn/a


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