A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv8911n54



Internal ID20142335
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:2253738..2262338hg38UCSC Ensembl
chr4:2255465..2264065hg19UCSC Ensembl
chr4:2225263..2233863hg18UCSC Ensembl
Cytoband4p16.3
Allele length
AssemblyAllele length
hg388601
hg198601
hg188601
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv593384, nsv593383
Samples
Known GenesMXD4
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv8911n54
Frequency
Sample Size17421
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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