A curated catalogue of human genomic structural variation




Variant Details

Variant: essv25779316



Internal ID18816030
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:143544453..143839664hg38UCSC Ensembl
Innerchr1:149039120..149334231hg19UCSC Ensembl
Innerchr1:147305744..147600855hg18UCSC Ensembl
Cytoband1q21.1
Allele length
AssemblyAllele length
hg38295212
hg19295112
hg18295112
Variant TypeCNV loss
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3894189
Supporting Variants
Samples
Known GenesLOC101929780, LOC388692, NBPF23
MethodSNP array
Analysis
PlatformIllumina HumanHap 610
CommentsNumber of probes=11
ReferenceSuktitipat_et_al_2014
Pubmed ID25118596
Accession Number(s)essv25779316
Frequency
Sample Size3017
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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