A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2763860



Internal ID10031210
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:8722817..9796988hg38UCSC Ensembl
Innerchr4:8724543..9798612hg19UCSC Ensembl
Innerchr4:8775443..9407710hg18UCSC Ensembl
Cytoband4p16.1
Allele length
AssemblyAllele length
hg381074172
hg191074070
hg18632268
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7028604, essv7028605, essv7028606, essv7028616, essv7028609, essv7028599, essv7028615, essv7028603, essv7028608, essv7028614, essv7028610, essv7028613, essv7028600, essv7028611, essv7028598, essv7028602, essv7028617, essv7028607, essv7028618
SamplesSW_1239, SW_0837, SW_0626, SW_1171, SW_1148, SW_1095, SW_1023, SW_0063, SW_1202, SW_1404, SW_1083, SW_0691, SW_1126, SW_0032, SW_0594, SW_1273, SW_1411, SW_1232, SW_0861
Known GenesDEFB131, DRD5, HMX1, LOC650293, MIR548I2, USP17L10, USP17L11, USP17L12, USP17L13, USP17L15, USP17L17, USP17L18, USP17L19, USP17L20, USP17L21, USP17L22, USP17L24, USP17L25, USP17L26, USP17L27, USP17L28, USP17L29, USP17L30, USP17L5, USP17L6P, USP17L9P
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)esv2763860
Frequency
Sample Size1109
Observed Gain5
Observed Loss14
Observed Complex0
Frequencyn/a


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