A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3614689



Internal ID7001582
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:115997522..116001521hg38UCSC Ensembl
chr7:115637576..115641575hg19UCSC Ensembl
Cytoband7q31.2
Allele length
AssemblyAllele length
hg384000
hg194000
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv12933787, essv12933785, essv12933790, essv12933789, essv12933788, essv12933784, essv12933786
SamplesHG03607, HG02315, HG00406, HG00118, HG02314, HG01868, HG00553
Known GenesTFEC
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3614689
Frequency
Sample Size2504
Observed Gain7
Observed Loss0
Observed Complex0
Frequencyn/a


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