A curated catalogue of human genomic structural variation




Variant Details

Variant: essv25779375



Internal ID19167084
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:178988818..179020159hg38UCSC Ensembl
Innerchr2:179853545..179884886hg19UCSC Ensembl
Innerchr2:179561790..179593131hg18UCSC Ensembl
Cytoband2q31.2
Allele length
AssemblyAllele length
hg3831342
hg1931342
hg1831342
Variant TypeCNV loss
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3893509
Supporting Variants
Samples
Known GenesCCDC141
MethodSNP array
Analysis
PlatformIllumina HumanHap 610
CommentsNumber of probes=10
ReferenceSuktitipat_et_al_2014
Pubmed ID25118596
Accession Number(s)essv25779375
Frequency
Sample Size3017
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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