A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3614367



Internal ID7001261
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:102980678..102984221hg38UCSC Ensembl
Innerchr7:102980678..102984221hg38UCSC Ensembl
Outerchr7:102980541..102984377hg38UCSC Ensembl
chr7:102621125..102624668hg19UCSC Ensembl
Innerchr7:102621125..102624668hg19UCSC Ensembl
Outerchr7:102620988..102624824hg19UCSC Ensembl
Cytoband7q22.1
Allele length
AssemblyAllele length
hg383544
hg193544
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv12912200, essv12912194, essv12912193, essv12912195, essv12912197, essv12912198, essv12912199, essv12912192, essv12912196, essv12912201
SamplesNA19204, NA20332, HG03095, HG01350, HG03209, HG03556, NA20355, HG01204, HG01108, NA20334
Known GenesFBXL13
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3614367
Frequency
Sample Size2504
Observed Gain0
Observed Loss10
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer