A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv1327e214



Internal ID22757221
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:123151478..123249484hg38UCSC Ensembl
chr7:122791532..122889538hg19UCSC Ensembl
Cytoband7q31.32
Allele length
AssemblyAllele length
hg3898007
hg1998007
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv3614850, esv3614851
SamplesNA19914, HG03100, HG03224, NA19238, NA19035, HG01874
Known GenesSLC13A1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)dgv1327e214
Frequency
Sample Size2504
Observed Gain6
Observed Loss0
Observed Complex0
Frequencyn/a


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