A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv1e203



Internal ID18984978
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:16487426..16935752hg38UCSC Ensembl
chr1:16813921..17262247hg19UCSC Ensembl
chr1:16686508..17134834hg18UCSC Ensembl
Cytoband1p36.13
Allele length
AssemblyAllele length
hg38448327
hg19448327
hg18448327
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv2763736, esv2764199
SamplesRW_0234, RW_0631, RW_0281, SW_1167, RW_0101, RW_0030, RW_0309, SW_1149, SW_0089, RW_0333, RW_0559, RW_0357, RW_0520, SW_0639, SW_0046, SW_1405, RW_0194, RW_0183, RW_0310, SW_0859, RW_0105, SW_1190, RW_0221, RW_0108, SW_0803, SW_1371, RW_0060, RW_0179, SW_1064, RW_0218, SW_1124, SW_1240, RW_0348, SW_1277, RW_0020, RW_0585, SW_0801, SW_1180, SW_1439, RW_0318, RW_0570, SW_1196, RW_0567, RW_0620, SW_1198, SW_0185, SW_1095, SW_0173, SW_0833, RW_0093, RW_0315, RW_0289, SW_1478, RW_0655, RW_0531, SW_1166, RW_0196, RW_0258, RW_0354, SW_0230, RW_0173, SW_1402, RW_0186, RW_0521, SW_0834, RW_0272, SW_0009, SW_0149, SW_0057, RW_0162, RW_0546, SW_1100, RW_0346, RW_0021, RW_0664, SW_1340, SW_0002, SW_1467, RW_0604, SW_1354, SW_1438, RW_0180, SW_0759, RW_0069, RW_0098, RW_0087, RW_0158, RW_0293, SW_1213, SW_1295, RW_0603, RW_0658, RW_0573, RW_0296, RW_0666, SW_1527, SW_1450, RW_0250, RW_0593, RW_0041, RW_0217, SW_0757, RW_0187, SW_0147, RW_0046, RW_0643, RW_0311, SW_0116, RW_0063, RW_0526, SW_1356, RW_0068, RW_0210, RW_0314, SW_1406, RW_0574, SW_0885, SW_1424, RW_0191, RW_0106, RW_0268, SW_1404, SW_0269, RW_0212, RW_0327, SW_1282, SW_1083, RW_0216, RW_0540, RW_0023, RW_0043, RW_0085, RW_0255, SW_1106, SW_1443, SW_1365, SW_1201, RW_0648, RW_0054, RW_0178, RW_0361, SW_1323, RW_0099, SW_1428, RW_0112, RW_0552, RW_0034, RW_0156, SW_1306, SW_1012, SW_1433, SW_1503, SW_0605, SW_1112, RW_0007, RW_0560, RW_0110, RW_0599, SW_1367, RW_0148, RW_0583, SW_0375, SW_1153, RW_0003, SW_1045, RW_0192, RW_0146, RW_0195, SW_0253, SW_0659, SW_1435, RW_0558, RW_0078, RW_0324, RW_0615, SW_1111, RW_0047, SW_0058, RW_0169, SW_0146, RW_0084, RW_0161, RW_0233, RW_0288, SW_1325, RW_0251, RW_0545, RW_0640, RW_0359, SW_1305, RW_0321, SW_0077, RW_0120, SW_0829, SW_0638, RW_0525, SW_1074, RW_0536, SW_1242, SW_0257, RW_0335, RW_0257, SW_1327, SW_1118, SW_1176, SW_1137, RW_0032, RW_0190, SW_1472, SW_1436, RW_0215, SW_0062, SW_0060, SW_1456
Known GenesCROCC, CROCCP2, CROCCP3, ESPNP, LOC729574, MIR3675, MST1L, MST1P2, NBPF1
MethodMerging
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.
PlatformMerging
Comments
ReferenceVogler_et_al_2010
Pubmed ID21179565
Accession Number(s)dgv1e203
Frequency
Sample Size1109
Observed Gain115
Observed Loss105
Observed Complex0
Frequencyn/a


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