A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12848889



Internal ID2850705
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:76500726..76515970hg38UCSC Ensembl
chr7:76130043..76145287hg19UCSC Ensembl
Cytoband7q11.23
Allele length
AssemblyAllele length
hg3815245
hg1915245
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3613764
Supporting Variants
SamplesNA20851
Known GenesDTX2, UPK3B
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12848889
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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