A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2761604



Internal ID10028957
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr10:72262756..72287410hg38UCSC Ensembl
Innerchr10:74022514..74047168hg19UCSC Ensembl
Innerchr10:73692520..73717174hg18UCSC Ensembl
Cytoband10q22.1
Allele length
AssemblyAllele length
hg3824655
hg1924655
hg1824655
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6995081
SamplesSW_0859
Known GenesDDIT4
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)esv2761604
Frequency
Sample Size1109
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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