A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12849282



Internal ID2851098
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:76515471..76527696hg38UCSC Ensembl
chr7:76144788..76157013hg19UCSC Ensembl
Cytoband7q11.23
Allele length
AssemblyAllele length
hg3812226
hg1912226
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3613767
Supporting Variants
SamplesHG01351
Known GenesUPK3B
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12849282
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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