A curated catalogue of human genomic structural variation

Variant Details

Variant: esv3622017

Internal ID6662189
Location Information
TypeCoordinatesAssemblyOther Links
chr9:136844335..136854427hg38UCSC Ensembl
chr9:139738787..139748879hg19UCSC Ensembl
Allele length
AssemblyAllele length
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
PlatformMultiple platforms
Pubmed ID21293372
Accession Number(s)esv3622017
Sample Size2504
Observed Gain69
Observed Loss0
Observed Complex0

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