A curated catalogue of human genomic structural variation




Variant Details

Variant: essv25791941



Internal ID19182408
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:112252578..112295412hg38UCSC Ensembl
Innerchr6:112573780..112616614hg19UCSC Ensembl
Innerchr6:112680473..112723307hg18UCSC Ensembl
Cytoband6q21
Allele length
AssemblyAllele length
hg3842835
hg1942835
hg1842835
Variant TypeCNV gain
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3890928
Supporting Variants
Samples
Known GenesLAMA4
MethodSNP array
Analysis
PlatformIllumina HumanHap 610
CommentsNumber of probes=18
ReferenceSuktitipat_et_al_2014
Pubmed ID25118596
Accession Number(s)essv25791941
Frequency
Sample Size3017
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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