A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2763998



Internal ID10378034
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:159293192..159334314hg38UCSC Ensembl
Innerchr7:159085881..159127004hg19UCSC Ensembl
Innerchr7:158778642..158819765hg18UCSC Ensembl
Cytoband7q36.3
Allele length
AssemblyAllele length
hg3841123
hg1941124
hg1841124
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6991994, essv6991982, essv6991985, essv6991987, essv6991993, essv6991992, essv6991988, essv6991989, essv6991991, essv6991995, essv6991983, essv6991984, essv6991986
SamplesSW_1290, SW_0620, SW_1188, SW_1223, SW_0702, SW_1282, SW_0715, SW_0628, SW_1062, SW_1067, SW_0582, SW_0632, SW_1209
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)esv2763998
Frequency
Sample Size1109
Observed Gain1
Observed Loss12
Observed Complex0
Frequencyn/a


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