A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2763886



Internal ID10377922
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:7168793..7210514hg38UCSC Ensembl
Innerchr5:7168906..7210627hg19UCSC Ensembl
Innerchr5:7221906..7263627hg18UCSC Ensembl
Cytoband5p15.31
Allele length
AssemblyAllele length
hg3841722
hg1941722
hg1841722
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7030611, essv7030617, essv7030610, essv7030624, essv7030627, essv7030629, essv7030625, essv7030607, essv7030622, essv7030621, essv7030628, essv7030626, essv7030608, essv7030632, essv7030618, essv7030631, essv7030619, essv7030620, essv7030615, essv7030616, essv7030614, essv7030630, essv7030613, essv7030609
SamplesSW_1108, SW_1427, SW_0623, SW_1195, SW_1286, SW_1020, SW_0891, SW_0604, SW_0646, SW_1469, SW_0805, SW_1127, SW_0216, SW_1340, SW_0871, SW_1193, SW_0775, SW_0061, SW_1349, SW_1301, SW_1157, SW_1505, SW_1317, SW_1119
Known Genes
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)esv2763886
Frequency
Sample Size1109
Observed Gain0
Observed Loss24
Observed Complex0
Frequencyn/a


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