A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7012533



Internal ID10006893
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:38728724..38745684hg38UCSC Ensembl
Innerchr2:38955866..38972826hg19UCSC Ensembl
Innerchr2:38809370..38826330hg18UCSC Ensembl
Cytoband2p22.1
Allele length
AssemblyAllele length
hg3816961
hg1916961
hg1816961
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2763640
Supporting Variants
SamplesSW_0118
Known GenesGALM, SRSF7
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)essv7012533
Frequency
Sample Size1109
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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