A curated catalogue of human genomic structural variation




Variant Details

Variant: essv25799321



Internal ID19164925
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:178003074..178018892hg38UCSC Ensembl
Innerchr2:178867801..178883619hg19UCSC Ensembl
Innerchr2:178576047..178591865hg18UCSC Ensembl
Cytoband2q31.2
Allele length
AssemblyAllele length
hg3815819
hg1915819
hg1815819
Variant TypeCNV loss
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3893508
Supporting Variants
Samples
Known GenesPDE11A
MethodSNP array
Analysis
PlatformIllumina HumanHap 610
CommentsNumber of probes=7
ReferenceSuktitipat_et_al_2014
Pubmed ID25118596
Accession Number(s)essv25799321
Frequency
Sample Size3017
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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