A curated catalogue of human genomic structural variation




Variant Details

Variant: essv4261147



Internal ID11196999
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 StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv1248186
Supporting Variants
SamplesHuRef
Known GenesZNF804B
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferenceLevy_et_al_2007
Pubmed ID17803354
Accession Number(s)essv4261147
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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