A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3622017



Internal ID6662189
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:136844335..136854427hg38UCSC Ensembl
chr9:139738787..139748879hg19UCSC Ensembl
Cytoband9q34.3
Allele length
AssemblyAllele length
hg3810093
hg1910093
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv13657390, essv13657381, essv13657420, essv13657411, essv13657417, essv13657392, essv13657375, essv13657410, essv13657398, essv13657370, essv13657414, essv13657396, essv13657382, essv13657374, essv13657405, essv13657413, essv13657395, essv13657380, essv13657394, essv13657409, essv13657431, essv13657432, essv13657389, essv13657436, essv13657385, essv13657404, essv13657397, essv13657412, essv13657415, essv13657403, essv13657400, essv13657368, essv13657388, essv13657401, essv13657433, essv13657369, essv13657386, essv13657391, essv13657406, essv13657402, essv13657424, essv13657379, essv13657427, essv13657372, essv13657430, essv13657423, essv13657419, essv13657416, essv13657376, essv13657387, essv13657407, essv13657435, essv13657418, essv13657378, essv13657426, essv13657373, essv13657434, essv13657408, essv13657377, essv13657383, essv13657421, essv13657429, essv13657399, essv13657371, essv13657425, essv13657393, essv13657428, essv13657422, essv13657384
SamplesHG02317, HG00356, NA20351, NA19031, NA19712, NA19734, HG01700, HG00234, NA19310, HG01277, NA19149, NA19455, NA18993, HG01624, HG02139, NA19923, NA19920, HG02508, NA19184, HG00355, HG01344, HG01348, NA19308, NA18868, NA21106, HG02081, NA19914, NA18979, NA19314, NA21111, NA19735, NA18957, NA19309, NA19096, HG00451, HG01628, NA19316, HG01625, NA18640, NA19027, HG02278, NA21107, NA21112, NA18748, NA19704, NA19001, NA18997, HG01630, NA18910, HG02084, NA19307, HG02484, HG02301, NA19038, NA19794, NA19035, HG01345, NA18538, NA21109, HG02141, NA19740, NA19041, NA21117, HG02089, NA19095, NA21105, HG02860, NA20339, NA18553
Known GenesC9orf172, MAMDC4, PHPT1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3622017
Frequency
Sample Size2504
Observed Gain69
Observed Loss0
Observed Complex0
Frequencyn/a


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