A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2675844



Internal ID9595263
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:206641337..206642314hg38UCSC Ensembl
chr1:206814682..206815659hg19UCSC Ensembl
Cytoband1q32.1
Allele length
AssemblyAllele length
hg38978
hg19978
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5502411, essv5927103, essv5533635, essv6443070, essv5686270, essv5734074, essv6591669, essv5735005, essv6516207, essv5689442, essv5963776, essv5717884, essv5459405, essv6350634, essv5633160, essv6387965, essv6001980, essv6542470, essv5799649, essv6098061, essv5949726, essv5403987, essv5697260, essv5732200, essv5973088, essv6373816, essv6045499, essv6040248, essv5538949, essv5848851, essv6221433, essv5517305, essv6566864, essv5823006, essv6474940, essv6442067, essv5547276, essv5804987, essv5655830, essv6555415, essv6411791, essv6006577, essv5469177, essv6423012, essv6446351, essv5637435, essv6287205, essv5835306, essv6396881, essv6217984, essv6262732, essv5866270, essv6337374, essv5604887, essv6475963, essv6222372, essv5813080, essv6037353, essv5879402, essv6584939, essv6583249, essv5540644, essv5852909, essv5522034, essv6365157, essv6073883, essv6182442, essv6412628, essv6500152, essv5416194, essv6307075, essv6471699, essv6548086, essv6537651, essv5460393, essv6270939, essv5930680, essv6484837, essv6375999, essv6417925, essv5741110, essv6266688, essv6161879, essv5714810, essv5997672, essv5955228, essv6569825, essv5997883, essv5601090, essv5715083, essv5815056, essv6169754, essv5986469, essv5499456, essv6172467, essv6167051, essv5864387, essv5531622, essv6155239, essv6340970, essv5838716, essv6150295, essv6560549, essv5473423, essv5398856, essv6353767, essv5721226, essv5416503, essv5434091, essv6458641, essv6328620, essv6118021, essv5891038, essv6407371, essv5466475, essv5694230, essv5517057, essv6512756, essv5884114, essv6323416, essv5773026, essv6034451, essv5626642
SamplesHG00403, NA18502, HG01441, HG00542, NA19058, HG00592, HG01098, HG00608, NA19664, NA19066, NA18592, NA19399, NA18565, NA18561, NA19704, NA20816, NA18603, NA19092, NA18486, HG00699, NA18530, HG00449, NA18526, NA19067, NA18602, NA18967, NA19068, HG00589, NA19315, NA18597, HG00689, HG00448, NA19119, NA19131, NA18618, NA18574, NA18582, NA19457, NA18571, NA19138, NA19130, NA19079, NA18949, HG00590, NA19651, HG00683, HG00534, NA19075, NA19385, NA19087, HG01440, NA18867, HG00464, NA18614, NA18613, HG00629, NA18538, HG00268, NA19070, HG00596, HG00557, HG00428, NA19347, NA18933, HG00475, NA19717, NA19236, HG00436, NA18630, NA19064, NA18573, HG00651, NA19084, NA18626, NA18912, NA18532, HG00613, NA18555, NA18536, NA12778, NA18634, NA18945, NA18576, NA18546, NA18953, HG00611, NA18632, HG00476, NA18542, NA18533, NA18543, NA19747, NA19473, NA18950, HG00580, NA19144, NA19010, NA20790, HG01494, NA18943, NA20281, NA07037, HG00418, HG01489, HG01342, NA19818, HG00513, HG00478, NA19060, HG00421, NA12749, HG00656, HG00698, HG00595, NA18989, NA18488, NA20322, NA18623, NA19065, NA18622, HG00437, NA19153, NA12776
Known GenesDYRK3
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2675844
Frequency
Sample Size1151
Observed Gain0
Observed Loss123
Observed Complex0
Frequencyn/a


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