A curated catalogue of human genomic structural variation

Variant Details

Variant: esv2669208

Internal ID9588627
Location Information
TypeCoordinatesAssemblyOther Links
chr1:216058135..216058664hg38UCSC Ensembl
chr1:216231477..216232006hg19UCSC Ensembl
Allele length
AssemblyAllele length
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6053295, essv5896991, essv5662013, essv6140262, essv6487503, essv5671060, essv6227946, essv6465501, essv5776043, essv6418624, essv5928736, essv6096319, essv5835163, essv6126020, essv6185083, essv5817495, essv6586212, essv6110136, essv6150082, essv5980926, essv6528822, essv5884858, essv5549442, essv6133052, essv6304421, essv6556135, essv5395924, essv6428743, essv6134827, essv6321095, essv6588744, essv6004601, essv5442954, essv6576406, essv6380173, essv5445564, essv6308604, essv5510552, essv5408668, essv5869841, essv5850980, essv6021517, essv5701288, essv5773093, essv6035136, essv5754785, essv6246120, essv5595816, essv5662983, essv5491779, essv6302324, essv6346999, essv5764371, essv6461684, essv6234673, essv5766346, essv6459706, essv6357411, essv6257042, essv6538823, essv5493671, essv5627877, essv5568474, essv6005010, essv5478217, essv5695689, essv5665814, essv6348191, essv5705581, essv5970540, essv6122644, essv5569134, essv5788393, essv6270640, essv6275864, essv6143202, essv5447177, essv6251175, essv5546153, essv5419149, essv6262522, essv5749424, essv6241626, essv6110393, essv6134079, essv6466535, essv6219259, essv6019470, essv6477498, essv6254726, essv6113548, essv6297433, essv5799535, essv5407720, essv6420798, essv5945005, essv6254973, essv5811729, essv5626531, essv6584110, essv5450699, essv6041740, essv5660848, essv5532647, essv6068762, essv5430970
SamplesHG00323, HG00309, NA18870, NA19312, NA12154, NA12718, NA12489, NA19445, HG00152, NA12249, NA18861, NA19436, NA20787, HG00257, HG01353, HG00551, NA12342, NA19404, HG00127, HG00171, NA20510, NA19093, NA19401, NA19311, NA19223, NA19455, NA20299, NA10847, HG01389, NA20296, NA19359, NA19451, NA18517, NA19449, HG00148, NA19920, HG01204, HG01101, NA18488, NA12341, NA18868, HG01107, NA19463, HG00158, NA11919, NA18912, HG00179, NA18508, NA19675, NA19197, NA19443, NA19471, NA20757, NA19722, HG01061, HG00231, HG01183, NA07048, HG00149, NA11933, NA20765, NA11843, NA11995, NA18916, NA19679, HG00276, HG00284, NA19457, HG00237, HG00133, NA12751, NA19190, NA19213, NA19360, NA19380, NA19372, HG00268, NA19384, NA20795, NA19102, NA20753, NA19657, HG01170, HG00232, NA18504, NA18487, HG00377, HG01149, NA19921, NA19391, NA19403, NA20287, NA19446, HG01390, NA18499, HG00324, NA18853, HG00183, HG01522, HG00137, HG00271, NA18519, NA07000, HG01067, HG00312, HG00327
Known GenesUSH2A
AnalysisNo reference, merging analysis
Pubmed ID23128226
Accession Number(s)esv2669208
Sample Size1151
Observed Gain0
Observed Loss106
Observed Complex0

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