A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2760719



Internal ID10028081
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:21028993..21491066hg38UCSC Ensembl
Innerchr22:21383282..21845355hg19UCSC Ensembl
Innerchr22:19713282..20175355hg18UCSC Ensembl
Cytoband22q11.21
Allele length
AssemblyAllele length
hg38462074
hg19462074
hg18462074
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7026673, essv7026668, essv7026680, essv7026687, essv7026664, essv7026666, essv7026669, essv7026651, essv7026650, essv7026660, essv7026682, essv7026684, essv7026654, essv7026681, essv7026659, essv7026658, essv7026662, essv7026676, essv7026657, essv7026655, essv7026674, essv7026652, essv7026672, essv7026663, essv7026685, essv7026661, essv7026653, essv7026670, essv7026665, essv7026679, essv7026683, essv7026671, essv7026675, essv7026677, essv7026686
SamplesRW_0308, RW_0220, RW_0105, RW_0221, RW_0607, RW_0154, RW_0269, RW_0315, RW_0289, RW_0111, RW_0614, RW_0211, RW_0021, RW_0500, RW_0166, RW_0231, RW_0091, RW_0191, RW_0637, RW_0579, RW_0092, RW_0267, RW_0023, RW_0552, RW_0511, RW_0550, RW_0065, RW_0279, RW_0074, RW_0077, RW_0533, RW_0139, RW_0644, RW_0257, RW_0190
Known GenesBCRP2, FAM230B, HIC2, LOC400891, P2RX6P, PI4KAP2, POM121L8P, RIMBP3B, RIMBP3C, SLC7A4, TMEM191C
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)esv2760719
Frequency
Sample Size1109
Observed Gain35
Observed Loss0
Observed Complex0
Frequencyn/a


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