A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3615219



Internal ID6655418
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 State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv12982081, essv12982093, essv12982089, essv12982082, essv12982079, essv12982083, essv12982090, essv12982092, essv12982091, essv12982078, essv12982084, essv12982086, essv12982085, essv12982087, essv12982088, essv12982080
SamplesNA19207, HG03084, HG03342, HG03055, HG02255, HG03057, NA19184, HG03380, HG03575, HG02054, HG03391, NA19384, HG03547, HG02144, NA19916, HG03091
Known GenesTBXAS1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3615219
Frequency
Sample Size2504
Observed Gain0
Observed Loss16
Observed Complex0
Frequencyn/a


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