A curated catalogue of human genomic structural variation




Variant Details

Variant: essv25798176



Internal ID19173104
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:87307279..87344632hg38UCSC Ensembl
Innerchr8:88319507..88356860hg19UCSC Ensembl
Innerchr8:88388623..88425976hg18UCSC Ensembl
Cytoband8q21.3
Allele length
AssemblyAllele length
hg3837354
hg1937354
hg1837354
Variant TypeCNV loss
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3891435
Supporting Variants
Samples
Known GenesCNBD1
MethodSNP array
Analysis
PlatformIllumina HumanHap 610
CommentsNumber of probes=5
ReferenceSuktitipat_et_al_2014
Pubmed ID25118596
Accession Number(s)essv25798176
Frequency
Sample Size3017
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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