A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3891211



Internal ID18838921
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:139913273..139920589hg38UCSC Ensembl
Outerchr7:139913273..139920589hg38UCSC Ensembl
Innerchr7:139613072..139620388hg19UCSC Ensembl
Outerchr7:139613072..139620388hg19UCSC Ensembl
Innerchr7:139259541..139266857hg18UCSC Ensembl
Outerchr7:139259541..139266857hg18UCSC Ensembl
Cytoband7q34
Allele length
AssemblyAllele length
hg387317
hg197317
hg187317
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv25799639
Samples
Known GenesTBXAS1
MethodSNP array
Analysis
PlatformIllumina HumanHap 610
Comments
ReferenceSuktitipat_et_al_2014
Pubmed ID25118596
Accession Number(s)esv3891211
Frequency
Sample Size3017
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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