A curated catalogue of human genomic structural variation




Variant Details

Variant: essv13013873



Internal ID3015689
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:152419483..152446947hg38UCSC Ensembl
chr7:152116568..152144032hg19UCSC Ensembl
Cytoband7q36.1
Allele length
AssemblyAllele length
hg3827465
hg1927465
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3615506
Supporting Variants
SamplesHG03882
Known GenesFABP5P3, KMT2C
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv13013873
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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