A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2764026



Internal ID10378062
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:3325370..3578729hg38UCSC Ensembl
Innerchr7:3365002..3618361hg19UCSC Ensembl
Innerchr7:3331528..3584887hg18UCSC Ensembl
Cytoband7p22.2
Allele length
AssemblyAllele length
hg38253360
hg19253360
hg18253360
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7033344, essv7033347, essv7033339, essv7033333, essv7033336, essv7033337, essv7033349, essv7033348, essv7033340, essv7033343, essv7033342, essv7033335, essv7033331, essv7033341, essv7033338, essv7033350, essv7033332, essv7033346
SamplesSW_1427, SW_1129, SW_1431, SW_1456, SW_0552, SW_1282, SW_1284, SW_0271, SW_1194, SW_0215, SW_0843, SW_1471, SW_0120, SW_1205, SW_0339, SW_0674, SW_1229, SW_0100
Known GenesSDK1
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)esv2764026
Frequency
Sample Size1109
Observed Gain1
Observed Loss17
Observed Complex0
Frequencyn/a


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