A curated catalogue of human genomic structural variation

Variant Details

Variant: esv2677290

Internal ID9596709
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:14089504..14092910hg38UCSC Ensembl
Outerchr19:14089133..14093280hg38UCSC Ensembl
Innerchr19:14200316..14203722hg19UCSC Ensembl
Outerchr19:14199945..14204092hg19UCSC Ensembl
Allele length
AssemblyAllele length
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6000954, essv5430281, essv6487361, essv6090388, essv5841194, essv5601194, essv6035273, essv6014630, essv6114167, essv5939092, essv5900565, essv6082943, essv5973541, essv6389601, essv5986550, essv6345638, essv5547328, essv5785918, essv5580934, essv6269813, essv6411669, essv6272208, essv5875257, essv5851434, essv6206186, essv5892565, essv5548747, essv6296760, essv6041799, essv6276350, essv6076028, essv6096041, essv6482308, essv6049336, essv5807304, essv5804153, essv6440576, essv5606639, essv5429428, essv6278900, essv5961877, essv5896349, essv6548929, essv6198055, essv5960427, essv6578938, essv6083587, essv5458585, essv6396948, essv6300389, essv6410754, essv6119345, essv5947231, essv5894495, essv6353785, essv5553438, essv6310338, essv6273481, essv5700820, essv5918975, essv5813449, essv5849815, essv5998910, essv5986074, essv5408308, essv6363564, essv6102156, essv5729307, essv6087710, essv6350788, essv6398295, essv6331882, essv6152083, essv5554675, essv6027293, essv5470690, essv5418105, essv5674271, essv5887843, essv6329523, essv6079636, essv6410629, essv6398690, essv6124125, essv5470221, essv6417972
SamplesHG00613, HG00537, HG00536, HG00607, HG00619, HG00418, HG00705, HG00437, HG00500, HG00464, HG00565, HG00449, HG00707, HG00463, HG00657, HG00614, HG00428, HG00475, HG00542, HG00701, HG00683, HG00698, HG00581, HG00404, HG00651, HG00557, HG00578, HG00699, HG00479, HG00635, HG00543, HG00556, HG00472, HG00421, HG00583, HG00610, HG00692, HG00689, HG00628, HG00533, HG00419, HG00634, HG00403, HG00584, HG00662, HG00436, HG00620, HG00653, HG00629, HG00559, HG00501, HG00672, HG00478, HG00513, HG00524, HG00512, HG00534, HG00525, HG00589, HG00427, HG00590, HG00595, HG00443, HG00650, HG00663, HG00580, HG00448, HG00608, HG00654, HG00530, HG00656, HG00422, HG00708, HG00693, HG00566, HG00625, HG00690, HG00442, HG00473, HG00626, HG00684, HG00476, HG00671, HG00702, HG00704, HG00531
Known GenesPRKACA, SAMD1
AnalysisNo reference, merging analysis
Pubmed ID23128226
Accession Number(s)esv2677290
Sample Size1151
Observed Gain0
Observed Loss86
Observed Complex0

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