A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3048040



Internal ID11067706
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:22431268..22431329hg38UCSC Ensembl
chr4:22432891..22432952hg19UCSC Ensembl
Cytoband4p15.2
Allele length
AssemblyAllele length
hg3862
hg1962
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7317607
SamplesHuRef
Known GenesGPR125
MethodSequencing
Analysis
PlatformComplete Genomics
Comments
ReferencePang_et_al_2013b
Pubmed ID24192839
Accession Number(s)esv3048040
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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