A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2763898



Internal ID10031248
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:140838209..140874533hg38UCSC Ensembl
Innerchr5:140217794..140254118hg19UCSC Ensembl
Innerchr5:140197978..140234302hg18UCSC Ensembl
Cytoband5q31.3
Allele length
AssemblyAllele length
hg3836325
hg1936325
hg1836325
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv138e203
Supporting Variantsessv7031514, essv7031486, essv7031497, essv7031483, essv7031511, essv7031513, essv7031506, essv7031489, essv7031498, essv7031494, essv7031503, essv7031488, essv7031517, essv7031515, essv7031487, essv7031504, essv7031484, essv7031492, essv7031500, essv7031510, essv7031516, essv7031502, essv7031491, essv7031508, essv7031496, essv7031495, essv7031505, essv7031493, essv7031507, essv7031485, essv7031499, essv7031509
SamplesSW_1427, SW_0145, SW_0142, SW_1402, SW_0199, SW_0102, SW_0191, SW_1397, SW_1330, SW_1376, SW_1351, SW_0189, SW_0507, SW_0048, SW_1428, SW_1506, SW_0091, SW_1501, SW_1472, SW_1471, SW_1340, SW_0187, SW_1089, SW_1342, SW_0775, SW_0118, SW_1074, SW_1429, SW_1045, SW_0198, SW_0001, SW_0586
Known GenesPCDHA1, PCDHA10, PCDHA11, PCDHA2, PCDHA3, PCDHA4, PCDHA5, PCDHA6, PCDHA7, PCDHA8, PCDHA9
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)esv2763898
Frequency
Sample Size1109
Observed Gain0
Observed Loss32
Observed Complex0
Frequencyn/a


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