A curated catalogue of human genomic structural variation




Variant Details

Variant: essv25779904



Internal ID19178386
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:191898950..192071446hg38UCSC Ensembl
Innerchr1:191868080..192040576hg19UCSC Ensembl
Innerchr1:190134703..190307199hg18UCSC Ensembl
Cytoband1q31.2
Allele length
AssemblyAllele length
hg38172497
hg19172497
hg18172497
Variant TypeCNV loss
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3890959
Supporting Variants
Samples
Known Genes
MethodSNP array
Analysis
PlatformIllumina HumanHap 610
CommentsNumber of probes=27
ReferenceSuktitipat_et_al_2014
Pubmed ID25118596
Accession Number(s)essv25779904
Frequency
Sample Size3017
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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