A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3614851



Internal ID7001744
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:123157458..123230424hg38UCSC Ensembl
chr7:122797512..122870478hg19UCSC Ensembl
Cytoband7q31.32
Allele length
AssemblyAllele length
hg3872967
hg1972967
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1327e214
Supporting Variantsessv12949047, essv12949051, essv12949050, essv12949048, essv12949049
SamplesNA19914, HG03100, HG03224, NA19238, HG01874
Known GenesSLC13A1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3614851
Frequency
Sample Size2504
Observed Gain5
Observed Loss0
Observed Complex0
Frequencyn/a


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