A curated catalogue of human genomic structural variation




Variant Details

Variant: essv3570403



Internal ID6695099
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:89161543..89161543hg38UCSC Ensembl
chr7:88790857..88790857hg19UCSC Ensembl
chr7:88628793..88628793hg18UCSC Ensembl
Cytoband7q21.13
Allele length
AssemblyAllele length
hg3873
hg1973
hg1873
Variant TypeCNV insertion
Copy Number
Allele StateHeterozygous
Allele OriginNot tested
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv1007484
Supporting Variants
SamplesHuRef
Known GenesZNF804B
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)essv3570403
Frequency
Sample Size3
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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