A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3613748



Internal ID6653956
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:75992925..75999800hg38UCSC Ensembl
Innerchr7:75992954..75999771hg38UCSC Ensembl
Outerchr7:75992896..75999829hg38UCSC Ensembl
chr7:75622243..75629118hg19UCSC Ensembl
Innerchr7:75622272..75629089hg19UCSC Ensembl
Outerchr7:75622214..75629147hg19UCSC Ensembl
Cytoband7q11.23
Allele length
AssemblyAllele length
hg386876
hg196876
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv12848278, essv12848277
SamplesNA21118, HG02219
Known GenesSTYXL1, TMEM120A
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3613748
Frequency
Sample Size2504
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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