A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12819843



Internal ID618748
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:66997160..67117171hg38UCSC Ensembl
chr7:66462147..66582158hg19UCSC Ensembl
Cytoband7q11.21
Allele length
AssemblyAllele length
hg38120012
hg19120012
Variant TypeCNV gain
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3613534
Supporting Variants
SamplesHG00271
Known GenesMIR4650-1, MIR4650-2, TYW1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12819843
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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