A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3892240



Internal ID18836374
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:85058472..85340291hg38UCSC Ensembl
Outerchr12:85058472..85344778hg38UCSC Ensembl
Innerchr12:85452250..85734069hg19UCSC Ensembl
Outerchr12:85452250..85738556hg19UCSC Ensembl
Innerchr12:83976381..84258200hg18UCSC Ensembl
Outerchr12:83976381..84262687hg18UCSC Ensembl
Cytoband12q21.31
Allele length
AssemblyAllele length
hg38286307
hg19286307
hg18286307
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv25792008, essv25793071
Samples
Known GenesALX1, LRRIQ1
MethodSNP array
Analysis
PlatformIllumina HumanHap 550
Illumina HumanHap 610
Comments
ReferenceSuktitipat_et_al_2014
Pubmed ID25118596
Accession Number(s)esv3892240
Frequency
Sample Size3017
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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