A curated catalogue of human genomic structural variation




Variant Details

Variant: essv25793071



Internal ID18827425
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:85058472..85340291hg38UCSC Ensembl
Innerchr12:85452250..85734069hg19UCSC Ensembl
Innerchr12:83976381..84258200hg18UCSC Ensembl
Cytoband12q21.31
Allele length
AssemblyAllele length
hg38281820
hg19281820
hg18281820
Variant TypeCNV gain
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3892240
Supporting Variants
Samples
Known GenesALX1, LRRIQ1
MethodSNP array
Analysis
PlatformIllumina HumanHap 550
CommentsNumber of probes=37
ReferenceSuktitipat_et_al_2014
Pubmed ID25118596
Accession Number(s)essv25793071
Frequency
Sample Size3017
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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