A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2760188



Internal ID10376496
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:16018169..16063907hg38UCSC Ensembl
Innerchr1:16344664..16390402hg19UCSC Ensembl
Innerchr1:16217251..16262989hg18UCSC Ensembl
Cytoband1p36.13
Allele length
AssemblyAllele length
hg3845739
hg1945739
hg1845739
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6996300, essv6996744, essv6996522, essv6996633, essv6996411
SamplesSW_0086, SW_0786, SW_1282, SW_0061, SW_1480
Known GenesCLCNKA, CLCNKB, FAM131C, HSPB7
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)esv2760188
Frequency
Sample Size1109
Observed Gain4
Observed Loss1
Observed Complex0
Frequencyn/a


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