A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2760773



Internal ID10028135
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:46747685..46831514hg38UCSC Ensembl
Innerchr3:46789175..46873004hg19UCSC Ensembl
Innerchr3:46764179..46848008hg18UCSC Ensembl
Cytoband3p21.31
Allele length
AssemblyAllele length
hg3883830
hg1983830
hg1883830
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv102e203
Supporting Variantsessv7009005, essv7008994, essv7009016, essv7009017, essv7008985, essv7008990, essv7008993, essv7008992, essv7009028, essv7009013, essv7009024, essv7009043, essv7009038, essv7008986, essv7009018, essv7009010, essv7009021, essv7008988, essv7009009, essv7009004, essv7009003, essv7009014, essv7009026, essv7009030, essv7008998, essv7009045, essv7009007, essv7009001, essv7009008, essv7009025, essv7009002, essv7009012, essv7009036, essv7008995, essv7008984, essv7009023, essv7009046, essv7009015, essv7009040, essv7009029, essv7009020, essv7009047, essv7009031, essv7009041, essv7009039, essv7009049, essv7009032, essv7008987, essv7008997, essv7008983, essv7008991, essv7009006, essv7009035, essv7008999, essv7009037, essv7009019, essv7009042, essv7009034, essv7009048, essv7009027, essv7008996
SamplesRW_0169, RW_0300, RW_0635, RW_0356, RW_0039, RW_0256, RW_0007, RW_0270, RW_0650, RW_0006, RW_0560, RW_0297, RW_0555, RW_0025, RW_0181, RW_0022, RW_0217, RW_0614, RW_0179, RW_0049, RW_0304, RW_0353, RW_0121, RW_0074, RW_0269, RW_0522, RW_0540, RW_0023, RW_0118, RW_0575, RW_0143, RW_0648, RW_0311, RW_0618, RW_0601, RW_0175, RW_0085, RW_0288, RW_0257, RW_0327, RW_0129, RW_0020, RW_0333, RW_0201, RW_0578, RW_0523, RW_0120, RW_0021, RW_0326, RW_0186, RW_0335, RW_0117, RW_0132, RW_0574, RW_0149, RW_0031, RW_0028, RW_0361, RW_0234, RW_0207, RW_0285
Known GenesPRSS42
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)esv2760773
Frequency
Sample Size1109
Observed Gain0
Observed Loss61
Observed Complex0
Frequencyn/a


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