A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2671572



Internal ID9590991
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:139901465..139904388hg38UCSC Ensembl
Outerchr7:139901308..139904541hg38UCSC Ensembl
Innerchr7:139601264..139604187hg19UCSC Ensembl
Outerchr7:139601107..139604340hg19UCSC Ensembl
Cytoband7q34
Allele length
AssemblyAllele length
hg383234
hg193234
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5868764, essv5637087
SamplesNA19384, NA19916
Known GenesTBXAS1
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2671572
Frequency
Sample Size1151
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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