A curated catalogue of human genomic structural variation




Variant Details

Variant: esv1248186



Internal ID12064623
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:89220119..89220119hg38UCSC Ensembl
chr7:88849433..88849433hg19UCSC Ensembl
chr7:88687369..88687369hg18UCSC Ensembl
Cytoband7q21.13
Allele length
AssemblyAllele length
hg3868
hg1968
hg1868
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv4261147
SamplesHuRef
Known GenesZNF804B
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferenceLevy_et_al_2007
Pubmed ID17803354
Accession Number(s)esv1248186
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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