A curated catalogue of human genomic structural variation




Variant Details

Variant: essv25787345



Internal ID18816601
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:121747658..121845875hg38UCSC Ensembl
Innerchr12:122185564..122283781hg19UCSC Ensembl
Innerchr12:120669947..120768164hg18UCSC Ensembl
Cytoband12q24.31
Allele length
AssemblyAllele length
hg3898218
hg1998218
hg1898218
Variant TypeCNV loss
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3892268
Supporting Variants
Samples
Known GenesHPD, LOC338799, RHOF, SETD1B, TMEM120B
MethodSNP array
Analysis
PlatformIllumina HumanHap 610
CommentsNumber of probes=18
ReferenceSuktitipat_et_al_2014
Pubmed ID25118596
Accession Number(s)essv25787345
Frequency
Sample Size3017
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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