A curated catalogue of human genomic structural variation




Variant Details

Variant: essv25798427



Internal ID18831744
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:12820292..12858819hg38UCSC Ensembl
Innerchr1:12880153..12918674hg19UCSC Ensembl
Innerchr1:12802740..12841261hg18UCSC Ensembl
Cytoband1p36.21
Allele length
AssemblyAllele length
hg3838528
hg1938522
hg1838522
Variant TypeCNV loss
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3891192
Supporting Variants
Samples
Known GenesHNRNPCL1, LOC649330, PRAMEF11, PRAMEF2
MethodSNP array
Analysis
PlatformIllumina HumanHap 610
CommentsNumber of probes=13
ReferenceSuktitipat_et_al_2014
Pubmed ID25118596
Accession Number(s)essv25798427
Frequency
Sample Size3017
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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