A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12848915



Internal ID2850731
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:76500726..76515970hg38UCSC Ensembl
chr7:76130043..76145287hg19UCSC Ensembl
Cytoband7q11.23
Allele length
AssemblyAllele length
hg3815245
hg1915245
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3613765
Supporting Variants
SamplesNA19117
Known GenesDTX2, UPK3B
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12848915
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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