A curated catalogue of human genomic structural variation




Variant Details

Variant: essv13013862



Internal ID3015678
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 StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3615504
Supporting Variants
SamplesHG01679
Known GenesFABP5P3, KMT2C, LINC01003
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv13013862
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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