A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12982092



Internal ID2983908
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:139901378..139904468hg38UCSC Ensembl
Innerchr7:139901379..139904468hg38UCSC Ensembl
Outerchr7:139901378..139904469hg38UCSC Ensembl
chr7:139601177..139604267hg19UCSC Ensembl
Innerchr7:139601178..139604267hg19UCSC Ensembl
Outerchr7:139601177..139604268hg19UCSC Ensembl
Cytoband7q34
Allele length
AssemblyAllele length
hg383091
hg193091
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3615219
Supporting Variants
SamplesNA19384
Known GenesTBXAS1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12982092
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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