A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2669208



Internal ID9588627
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:216058135..216058664hg38UCSC Ensembl
chr1:216231477..216232006hg19UCSC Ensembl
Cytoband1q41
Allele length
AssemblyAllele length
hg38530
hg19530
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6538823, essv6219259, essv6465501, essv6461684, essv6584110, essv5493671, essv6459706, essv6246120, essv5491779, essv6150082, essv5773093, essv6134079, essv5788393, essv6275864, essv6133052, essv6068762, essv5660848, essv5407720, essv5754785, essv6113548, essv6418624, essv5627877, essv6487503, essv6035136, essv6122644, essv6477498, essv5626531, essv5869841, essv5850980, essv5569134, essv6321095, essv6556135, essv6586212, essv6140262, essv5665814, essv6005010, essv6466535, essv5764371, essv5811729, essv5671060, essv5749424, essv6185083, essv5884858, essv6270640, essv5701288, essv6304421, essv5928736, essv6302324, essv5430970, essv5799535, essv5662013, essv5450699, essv5695689, essv6251175, essv6234673, essv6588744, essv5447177, essv5510552, essv6297433, essv5395924, essv6262522, essv5970540, essv5478217, essv6254726, essv5549442, essv5896991, essv6004601, essv5945005, essv5766346, essv6126020, essv6143202, essv6134827, essv6576406, essv6308604, essv6357411, essv5568474, essv5408668, essv6241626, essv5442954, essv6041740, essv6019470, essv5445564, essv6021517, essv6110136, essv5419149, essv6348191, essv5532647, essv6428743, essv6257042, essv5546153, essv6254973, essv5980926, essv5817495, essv5705581, essv5595816, essv6227946, essv6096319, essv6346999, essv6528822, essv5776043, essv5662983, essv6380173, essv6053295, essv5835163, essv6420798, essv6110393
SamplesHG00231, NA11995, NA18861, NA18508, NA11933, HG00257, HG01389, NA19359, NA12751, NA18504, HG00179, NA19443, NA19190, NA18870, NA19920, HG01522, NA12341, HG00327, HG00271, NA19446, HG00127, NA18519, NA20795, NA18916, NA07048, NA19197, NA19457, NA20287, NA19384, HG00158, NA19404, HG01067, HG00148, HG01170, NA18868, HG00232, NA19372, NA19471, HG00309, NA19722, NA19445, NA20757, HG00323, NA19921, NA19451, NA20753, NA10847, HG01353, HG00137, HG00133, HG01183, HG00149, NA12489, NA19657, HG00268, HG00183, NA20787, NA19403, NA12342, NA19391, NA19455, NA12718, HG01149, HG00551, HG01390, HG00324, HG00284, NA11919, NA20299, NA19449, NA18499, NA12249, NA18912, HG01101, NA18853, HG00276, HG00152, HG01107, NA19675, HG01204, NA19436, NA20765, NA20296, NA19401, NA18517, NA19380, HG00237, NA19679, NA19311, NA19360, HG00312, NA19223, NA19093, NA20510, NA19102, NA11843, NA19213, HG00377, NA18488, NA19312, HG00171, NA19463, NA07000, NA12154, NA18487, HG01061
Known GenesUSH2A
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2669208
Frequency
Sample Size1151
Observed Gain0
Observed Loss106
Observed Complex0
Frequencyn/a


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