A curated catalogue of human genomic structural variation




Variant Details

Variant: esv1612109



Internal ID12428543
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:88855330..88855330hg38UCSC Ensembl
chr7:88484644..88484644hg19UCSC Ensembl
chr7:88322580..88322580hg18UCSC Ensembl
Cytoband7q21.13
Allele length
AssemblyAllele length
hg38308
hg19308
hg18308
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv4046894
SamplesHuRef
Known GenesZNF804B
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferenceLevy_et_al_2007
Pubmed ID17803354
Accession Number(s)esv1612109
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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