A curated catalogue of human genomic structural variation

Variant Details

Variant: esv2760451

Internal ID10027814
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:46130778..46687628hg38UCSC Ensembl
Innerchr17:44208144..44764994hg19UCSC Ensembl
Innerchr17:41563921..42120174hg18UCSC Ensembl
Allele length
AssemblyAllele length
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7024726, essv7024687, essv7024707, essv7024705, essv7024650, essv7024672, essv7024695, essv7024675, essv7024735, essv7024741, essv7024712, essv7024723, essv7024651, essv7024759, essv7024718, essv7024737, essv7024704, essv7024717, essv7024638, essv7024671, essv7024729, essv7024719, essv7024746, essv7024632, essv7024688, essv7024673, essv7024701, essv7024714, essv7024665, essv7024668, essv7024664, essv7024641, essv7024683, essv7024692, essv7024636, essv7024663, essv7024743, essv7024658, essv7024669, essv7024682, essv7024653, essv7024640, essv7024702, essv7024706, essv7024724, essv7024738, essv7024697, essv7024648, essv7024760, essv7024677, essv7024652, essv7024681, essv7024709, essv7024715, essv7024635, essv7024751, essv7024694, essv7024659, essv7024758, essv7024696, essv7024752, essv7024748, essv7024649, essv7024657, essv7024674, essv7024647, essv7024654, essv7024660, essv7024680, essv7024676, essv7024728, essv7024708, essv7024693, essv7024720, essv7024646, essv7024686, essv7024637, essv7024753, essv7024685, essv7024755, essv7024750, essv7024734, essv7024725, essv7024644, essv7024757, essv7024740, essv7024730, essv7024747, essv7024655, essv7024739, essv7024639, essv7024691, essv7024643, essv7024703, essv7024731, essv7024698, essv7024721, essv7024670, essv7024716, essv7024710, essv7024754, essv7024679, essv7024749, essv7024699, essv7024736, essv7024713, essv7024727, essv7024662, essv7024742, essv7024684, essv7024666, essv7024661, essv7024642, essv7024690, essv7024732
SamplesRW_0010, RW_0101, RW_0329, RW_0333, RW_0629, RW_0042, RW_0129, RW_0164, RW_0502, RW_0183, RW_0193, RW_0105, RW_0116, RW_0197, RW_0029, RW_0222, RW_0104, RW_0585, RW_0154, RW_0013, RW_0562, RW_0018, RW_0577, RW_0531, RW_0532, RW_0578, RW_0354, RW_0033, RW_0173, RW_0211, RW_0162, RW_0546, RW_0031, RW_0208, RW_0611, RW_0059, RW_0140, RW_0223, RW_0049, RW_0322, RW_0094, RW_0300, RW_0573, RW_0248, RW_0529, RW_0275, RW_0581, RW_0046, RW_0311, RW_0121, RW_0526, RW_0314, RW_0304, RW_0351, RW_0632, RW_0528, RW_0574, RW_0170, RW_0191, RW_0268, RW_0579, RW_0307, RW_0092, RW_0107, RW_0216, RW_0306, RW_0566, RW_0582, RW_0054, RW_0358, RW_0034, RW_0039, RW_0576, RW_0560, RW_0656, RW_0599, RW_0263, RW_0356, RW_0132, RW_0065, RW_0080, RW_0095, RW_0047, RW_0651, RW_0621, RW_0113, RW_0117, RW_0061, RW_0072, RW_0590, RW_0077, RW_0251, RW_0640, RW_0527, RW_0636, RW_0137, RW_0205, RW_0525, RW_0635, RW_0602, RW_0124, RW_0305, RW_0554, RW_0053, RW_0012, RW_0254, RW_0056, RW_0229, RW_0100, RW_0515, RW_0032, RW_0215, RW_0271, RW_0639
Known GenesARL17A, ARL17B, KANSL1, KANSL1-AS1, LOC644172, LRRC37A, LRRC37A2, NSF, NSFP1
AnalysisTwo different algorithms (PennCNV and Birdseye) were applied to detect CNVs. Only congruent CNV events regarding direction of effect that were detected by both algorithms were merged using the outer borders of the event in a first step. In a second step only CNVs that were detected in at least two individuals were merged into a CNVR.
Pubmed ID21179565
Accession Number(s)esv2760451
Sample Size1109
Observed Gain37
Observed Loss78
Observed Complex0

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