A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3606694



Internal ID6993629
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:126894710..126905929hg38UCSC Ensembl
chr5:126230402..126241621hg19UCSC Ensembl
Cytoband5q23.2
Allele length
AssemblyAllele length
hg3811220
hg1911220
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv12051489, essv12051501, essv12051488, essv12051503, essv12051509, essv12051491, essv12051498, essv12051492, essv12051500, essv12051495, essv12051507, essv12051502, essv12051490, essv12051506, essv12051505, essv12051494, essv12051496, essv12051499, essv12051497, essv12051504, essv12051493, essv12051508
SamplesHG01441, NA19703, HG01303, HG03052, NA20274, HG01326, HG02476, HG03515, HG03172, HG02489, HG03189, HG01973, HG02104, HG03169, HG01942, NA19788, HG02008, HG01572, HG00742, HG03488, HG01395, HG01923
Known GenesMARCH3
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3606694
Frequency
Sample Size2504
Observed Gain0
Observed Loss22
Observed Complex0
Frequencyn/a


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