A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv7399n54



Internal ID22775294
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:241906088..242093579hg38UCSC Ensembl
chr2:242848239..243035730hg19UCSC Ensembl
chr2:242496912..242684403hg18UCSC Ensembl
Cytoband2q37.3
Allele length
AssemblyAllele length
hg38187492
hg19187492
hg18187492
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv585011, nsv585017, nsv585050, nsv585015, nsv585016, nsv585009, nsv585006, nsv585046, nsv585063, nsv585048, nsv585022, nsv585058, nsv585019, nsv585005, nsv585042, nsv585064, nsv584997, nsv585062, nsv585057, nsv585055, nsv585045, nsv585013, nsv585018, nsv585043, nsv585044, nsv585059, nsv585024, nsv585014, nsv585010, nsv585008, nsv585012, nsv585025, nsv585049, nsv585047, nsv585023, nsv585007, nsv585056
Samples
Known GenesLOC728323
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv7399n54
Frequency
Sample Size17421
Observed Gain0
Observed Loss63
Observed Complex0
Frequencyn/a


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