A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2760963



Internal ID10028325
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:140838209..140864171hg38UCSC Ensembl
Innerchr5:140217794..140243756hg19UCSC Ensembl
Innerchr5:140197978..140223940hg18UCSC Ensembl
Cytoband5q31.3
Allele length
AssemblyAllele length
hg3825963
hg1925963
hg1825963
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv138e203
Supporting Variantsessv7013100, essv7013091, essv7013105, essv7013120, essv7013106, essv7013094, essv7013104, essv7013110, essv7013099, essv7013114, essv7013124, essv7013118, essv7013119, essv7013116, essv7013107, essv7013098, essv7013121, essv7013103, essv7013092, essv7013109, essv7013115, essv7013122, essv7013111, essv7013113, essv7013089, essv7013108, essv7013095, essv7013097, essv7013093, essv7013117, essv7013096, essv7013102
SamplesRW_0620, RW_0583, RW_0520, RW_0604, RW_0104, RW_0606, RW_0146, RW_0181, RW_0603, RW_0246, RW_0353, RW_0074, RW_0506, RW_0558, RW_0004, RW_0061, RW_0602, RW_0637, RW_0505, RW_0185, RW_0593, RW_0653, RW_0328, RW_0056, RW_0609, RW_0032, RW_0562, RW_0186, RW_0048, RW_0581, RW_0508, RW_0060
Known GenesPCDHA1, PCDHA10, 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)esv2760963
Frequency
Sample Size1109
Observed Gain0
Observed Loss32
Observed Complex0
Frequencyn/a


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