A curated catalogue of human genomic structural variation




Variant Details

Variant: essv25784737



Internal ID18832856
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:26945269..26971722hg38UCSC Ensembl
Innerchr12:27098202..27124655hg19UCSC Ensembl
Innerchr12:26989469..27015922hg18UCSC Ensembl
Cytoband12p11.23
Allele length
AssemblyAllele length
hg3826454
hg1926454
hg1826454
Variant TypeCNV loss
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3892164
Supporting Variants
Samples
Known GenesFGFR1OP2, TM7SF3
MethodSNP array
Analysis
PlatformIllumina HumanHap 610
CommentsNumber of probes=13
ReferenceSuktitipat_et_al_2014
Pubmed ID25118596
Accession Number(s)essv25784737
Frequency
Sample Size3017
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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