A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2676633



Internal ID9596052
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:140014722..140016102hg38UCSC Ensembl
Outerchr7:140014685..140016152hg38UCSC Ensembl
Innerchr7:139714522..139715902hg19UCSC Ensembl
Outerchr7:139714485..139715952hg19UCSC Ensembl
Cytoband7q34
Allele length
AssemblyAllele length
hg381468
hg191468
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5734677, essv6571386, essv5548818, essv5529475
SamplesNA19317, NA19380, NA19703, NA18908
Known GenesTBXAS1
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2676633
Frequency
Sample Size1151
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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