A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv7172n54



Internal ID22775067
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:172423104..172443028hg38UCSC Ensembl
chr2:173287832..173307756hg19UCSC Ensembl
chr2:172996078..173016002hg18UCSC Ensembl
Cytoband2q31.1
Allele length
AssemblyAllele length
hg3819925
hg1919925
hg1819925
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv583664, nsv583663
Samples
Known GenesITGA6
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv7172n54
Frequency
Sample Size17421
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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