A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12982094



Internal ID2983910
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:140014660..140016129hg38UCSC Ensembl
Innerchr7:140014660..140016129hg38UCSC Ensembl
Outerchr7:140014438..140016322hg38UCSC Ensembl
chr7:139714460..139715929hg19UCSC Ensembl
Innerchr7:139714460..139715929hg19UCSC Ensembl
Outerchr7:139714238..139716122hg19UCSC Ensembl
Cytoband7q34
Allele length
AssemblyAllele length
hg381470
hg191470
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3615220
Supporting Variants
SamplesNA18908
Known GenesTBXAS1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12982094
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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