A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3614850



Internal ID7001743
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 Variantsdgv1327e214
Supporting Variantsessv12949042, essv12949045, essv12949046, essv12949044, essv12949043
SamplesNA19914, HG03100, HG03224, NA19238, NA19035
Known GenesSLC13A1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3614850
Frequency
Sample Size2504
Observed Gain5
Observed Loss0
Observed Complex0
Frequencyn/a


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