A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3891199



Internal ID19185595
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:123115391..123123733hg38UCSC Ensembl
Outerchr7:123115391..123123733hg38UCSC Ensembl
Innerchr7:122755445..122763787hg19UCSC Ensembl
Outerchr7:122755445..122763787hg19UCSC Ensembl
Innerchr7:122542681..122551023hg18UCSC Ensembl
Outerchr7:122542681..122551023hg18UCSC Ensembl
Cytoband7q31.32
Allele length
AssemblyAllele length
hg388343
hg198343
hg188343
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv25796497
Samples
Known GenesSLC13A1
MethodSNP array
Analysis
PlatformIllumina Human OmniExpress
Comments
ReferenceSuktitipat_et_al_2014
Pubmed ID25118596
Accession Number(s)esv3891199
Frequency
Sample Size3017
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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