A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3614348



Internal ID7001242
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:102329140..102382738hg38UCSC Ensembl
chr7:101969557..102023185hg19UCSC Ensembl
Cytoband7q22.1
Allele length
AssemblyAllele length
hg3853599
hg1953629
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv12911503, essv12911502
SamplesNA20287, NA19437
Known GenesLOC100289561, LOC100630923, SPDYE6
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3614348
Frequency
Sample Size2504
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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