A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3615684



Internal ID7002573
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:157262531..157275268hg38UCSC Ensembl
chr7:157055225..157067962hg19UCSC Ensembl
Cytoband7q36.3
Allele length
AssemblyAllele length
hg3812738
hg1912738
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv13040082
SamplesHG00629
Known GenesUBE3C
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3615684
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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