A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv7253n54



Internal ID18999429
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:202655549..202797056hg38UCSC Ensembl
chr2:203520272..203661779hg19UCSC Ensembl
chr2:203228517..203370024hg18UCSC Ensembl
Cytoband2q33.1
Allele length
AssemblyAllele length
hg38141508
hg19141508
hg18141508
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv584180, nsv584181, nsv584178
SamplesNINDS_16
Known GenesFAM117B, ICA1L
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv7253n54
Frequency
Sample Size17421
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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