A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3612404



Internal ID6999305
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:16755027..16760868hg38UCSC Ensembl
Innerchr7:16755028..16760867hg38UCSC Ensembl
Outerchr7:16755026..16760869hg38UCSC Ensembl
chr7:16794652..16800493hg19UCSC Ensembl
Innerchr7:16794653..16800492hg19UCSC Ensembl
Outerchr7:16794651..16800494hg19UCSC Ensembl
Cytoband7p21.1
Allele length
AssemblyAllele length
hg385842
hg195842
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv12688300, essv12688295, essv12688292, essv12688304, essv12688294, essv12688297, essv12688301, essv12688293, essv12688299, essv12688296, essv12688305, essv12688302, essv12688303, essv12688298
SamplesNA18745, HG01850, HG00542, NA19058, HG02407, HG01853, NA18635, NA19079, HG00701, HG00475, NA18534, NA18548, NA18559, NA18989
Known GenesTSPAN13
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3612404
Frequency
Sample Size2504
Observed Gain0
Observed Loss14
Observed Complex0
Frequencyn/a


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