A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3615686



Internal ID7002575
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:157262713..157275415hg38UCSC Ensembl
Innerchr7:157262863..157275265hg38UCSC Ensembl
Outerchr7:157262563..157275565hg38UCSC Ensembl
chr7:157055407..157068109hg19UCSC Ensembl
Innerchr7:157055557..157067959hg19UCSC Ensembl
Outerchr7:157055257..157068259hg19UCSC Ensembl
Cytoband7q36.3
Allele length
AssemblyAllele length
hg3812703
hg1912703
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1347e214
Supporting Variantsessv13040085, essv13040086
SamplesHG03132, HG01841
Known GenesUBE3C
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3615686
Frequency
Sample Size2504
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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