A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3615504



Internal ID6655703
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:152412077..152571064hg38UCSC Ensembl
chr7:152109162..152268149hg19UCSC Ensembl
Cytoband7q36.1
Allele length
AssemblyAllele length
hg38158988
hg19158988
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1339e214
Supporting Variantsessv13013862, essv13013863
SamplesHG01679, HG03882
Known GenesFABP5P3, KMT2C, LINC01003
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3615504
Frequency
Sample Size2504
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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