A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv6685n54



Internal ID20140109
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:9405901..9406676hg38UCSC Ensembl
chr2:9546030..9546805hg19UCSC Ensembl
chr2:9463481..9464256hg18UCSC Ensembl
Cytoband2p25.1
Allele length
AssemblyAllele length
hg38776
hg19776
hg18776
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv580927, nsv580926
Samples
Known GenesITGB1BP1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv6685n54
Frequency
Sample Size17421
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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