A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2676108



Internal ID9942213
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
InnerchrX:68325774..68327580hg38UCSC Ensembl
OuterchrX:68325403..68327950hg38UCSC Ensembl
InnerchrX:67545616..67547422hg19UCSC Ensembl
OuterchrX:67545245..67547792hg19UCSC Ensembl
CytobandXq12
Allele length
AssemblyAllele length
hg382548
hg192548
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6560562, essv5604728, essv6114881, essv5659940, essv5971188, essv5660063, essv6390789, essv5490769, essv5931716, essv5687497, essv5508507, essv6505727, essv6496277, essv6092676, essv6225356, essv6562159, essv5822104, essv5609396, essv5861191, essv5796437, essv6226488, essv5851455, essv5561621, essv6191438, essv6208530, essv6424804, essv6522107, essv5419799, essv6092650, essv5686964, essv6034400, essv5428845, essv6529195, essv6411300, essv5585607, essv6340216, essv5532949, essv6084642, essv5446117, essv6297134, essv5668923, essv5921273, essv5787598, essv6463756, essv5423066, essv5895359, essv6158330, essv6104965, essv6497092, essv5563606, essv5836215, essv6417848, essv5765690, essv6507482, essv5524957, essv6514565, essv5909787, essv5591148, essv6313620, essv6165244, essv5876365, essv5977166, essv6042754, essv6338191, essv5472513, essv5861808, essv5827534, essv6159269, essv6486092, essv5963658, essv5970432, essv5799929, essv5799643, essv5684591, essv5408156, essv6588453, essv5724400, essv6459491, essv5665158, essv5660998, essv6259512, essv6536759, essv5496764, essv6156955, essv5875352, essv5562262, essv5635221, essv6373414, essv6284968, essv6360237, essv6357677, essv6325441, essv6280165, essv6218449, essv6576833, essv6379790, essv5620581
SamplesNA18502, NA19700, NA18924, NA18861, NA18508, NA18507, NA18917, NA18486, NA20294, NA19355, NA19819, NA19393, NA18504, NA19190, NA19098, NA18870, NA19920, NA18510, NA19107, NA19396, NA19171, NA19379, NA18519, NA18489, NA19119, NA18923, NA19198, NA19131, NA19197, NA19313, NA19138, NA18498, NA19681, NA19130, NA18874, NA18868, NA19137, NA19235, NA19207, NA19172, HG01176, NA19159, NA19189, NA18520, NA18908, NA18867, NA19921, NA19200, NA19247, NA18934, NA19152, NA18933, NA19236, NA18516, NA19982, NA18910, NA18871, NA18907, HG01390, NA18499, NA18856, NA18912, NA18853, HG01497, NA19099, NA19225, NA18523, NA19469, NA19160, NA18858, HG01107, NA19401, NA18909, NA19108, NA19256, NA19147, NA18517, NA20276, NA19144, NA19467, NA20341, NA19376, NA18501, NA19248, NA19093, NA19102, NA18873, NA19116, NA19213, NA19900, NA18505, NA19129, NA19463, NA18511, NA18522, NA19346, NA18487
Known GenesOPHN1
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2676108
Frequency
Sample Size1151
Observed Gain0
Observed Loss97
Observed Complex0
Frequencyn/a


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