A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2677043



Internal ID9596462
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr9:69122000..69130306hg38UCSC Ensembl
Outerchr9:69121629..69130676hg38UCSC Ensembl
Innerchr9:71736916..71745222hg19UCSC Ensembl
Outerchr9:71736545..71745592hg19UCSC Ensembl
Cytoband9q21.11
Allele length
AssemblyAllele length
hg389048
hg199048
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5690790, essv5950412, essv6503072, essv5825086, essv5548358, essv6557570, essv6034344, essv6509133, essv6540415, essv6413220, essv5553694, essv6529717, essv5842728, essv6555066, essv5994596, essv5421320, essv5808685, essv5603636, essv5908423, essv5423473, essv5981065, essv5907473, essv5964948, essv5635668, essv5623822, essv6455419, essv6435710, essv5485917, essv6247210, essv6304109, essv5426934, essv6171263, essv5680927, essv6178266, essv6465732, essv5671207, essv6504631, essv6295113, essv5827530, essv5674570, essv5972200, essv5926136, essv6486514, essv6002514, essv5756598, essv5480323, essv5902359, essv5975486, essv6500048, essv6525690, essv5546928, essv6505489, essv5820358, essv5736834, essv6265297, essv6224553, essv5481017, essv6074597, essv5610820, essv5988779, essv6070441, essv6552018, essv5913113, essv5535634, essv6450675, essv6136904, essv6596224, essv5955966, essv5538148, essv5485251, essv5420445, essv6461912, essv5791849, essv6471645, essv6572887, essv5592380, essv5923594, essv6188286, essv6323778
SamplesHG00626, HG00403, HG00650, HG00542, HG00442, HG00592, HG00536, HG00608, HG00559, HG00524, HG00566, HG00449, HG00654, HG00693, HG00663, HG00589, HG00501, HG00702, HG00448, HG00634, HG00610, HG00537, HG00590, HG00512, HG00683, HG00422, HG00705, HG00427, HG00530, HG00419, HG00543, HG00560, HG00629, HG00443, HG00596, HG00557, HG00428, HG00577, HG00701, HG00475, HG00436, HG00556, HG00584, HG00533, HG00583, HG00500, HG00619, HG00708, HG00692, HG00635, HG00651, HG00690, HG00404, HG00531, HG00479, HG00684, HG00613, HG00525, HG00704, HG00463, HG00611, HG00476, HG00565, HG00473, HG00607, HG00418, HG00620, HG00707, HG00672, HG00614, HG00513, HG00578, HG00478, HG00656, HG00595, HG00472, HG00628, HG00437, HG00581
Known GenesTJP2
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2677043
Frequency
Sample Size1151
Observed Gain0
Observed Loss79
Observed Complex0
Frequencyn/a


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