A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3615307



Internal ID7002196
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:143728246..143743547hg38UCSC Ensembl
chr7:143425339..143440640hg19UCSC Ensembl
Cytoband7q35
Allele length
AssemblyAllele length
hg3815302
hg1915302
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv12992396, essv12992395, essv12992391, essv12992389, essv12992390, essv12992394, essv12992392, essv12992393
SamplesNA18966, NA18990, HG03073, HG00443, NA18634, NA19834, HG01878, NA18941
Known GenesFAM115C
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3615307
Frequency
Sample Size2504
Observed Gain8
Observed Loss0
Observed Complex0
Frequencyn/a


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