A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2761079



Internal ID10028441
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:65601260..66224746hg38UCSC Ensembl
Innerchr7:65066173..65689733hg19UCSC Ensembl
Innerchr7:64703608..65327168hg18UCSC Ensembl
Cytoband7q11.21
Allele length
AssemblyAllele length
hg38623487
hg19623561
hg18623561
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7014771, essv7014768, essv7014770, essv7014769
SamplesRW_0629, RW_0277, RW_0204, RW_0005
Known GenesASL, CCT6P1, CRCP, GUSB, INTS4L2, LOC441242, SNORA22, TPST1, VKORC1L1
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)esv2761079
Frequency
Sample Size1109
Observed Gain3
Observed Loss1
Observed Complex0
Frequencyn/a


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