A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3893929



Internal ID19184783
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:61540727..61552940hg38UCSC Ensembl
Outerchr4:61540727..61553708hg38UCSC Ensembl
Innerchr4:62406445..62418658hg19UCSC Ensembl
Outerchr4:62406445..62419426hg19UCSC Ensembl
Innerchr4:62089040..62101253hg18UCSC Ensembl
Outerchr4:62089040..62102021hg18UCSC Ensembl
Cytoband4q13.1
Allele length
AssemblyAllele length
hg3812982
hg1912982
hg1812982
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv25797091, essv25785304, essv25797303, essv25782319, essv25797240
Samples
Known GenesLPHN3
MethodSNP array
Analysis
PlatformIllumina HumanHap 610
Illumina Human OmniExpress
Comments
ReferenceSuktitipat_et_al_2014
Pubmed ID25118596
Accession Number(s)esv3893929
Frequency
Sample Size3017
Observed Gain0
Observed Loss5
Observed Complex0
Frequencyn/a


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