A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3893588



Internal ID18837722
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:227352..241493hg38UCSC Ensembl
Outerchr3:227352..241493hg38UCSC Ensembl
Innerchr3:269035..283176hg19UCSC Ensembl
Outerchr3:269035..283176hg19UCSC Ensembl
Innerchr3:244035..258176hg18UCSC Ensembl
Outerchr3:244035..258176hg18UCSC Ensembl
Cytoband3p26.3
Allele length
AssemblyAllele length
hg3814142
hg1914142
hg1814142
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv25782932
Samples
Known GenesCHL1
MethodSNP array
Analysis
PlatformIllumina HumanHap 610
Comments
ReferenceSuktitipat_et_al_2014
Pubmed ID25118596
Accession Number(s)esv3893588
Frequency
Sample Size3017
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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