A curated catalogue of human genomic structural variation




Variant Details

Variant: essv4233205



Internal ID11515743
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:117864745..117864745hg38UCSC Ensembl
chr7:117504799..117504799hg19UCSC Ensembl
chr7:117292035..117292035hg18UCSC Ensembl
Cytoband7q31.31
Allele length
AssemblyAllele length
hg3875
hg1975
hg1875
Variant TypeCNV insertion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv1717444
Supporting Variants
SamplesHuRef
Known GenesCTTNBP2
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferenceLevy_et_al_2007
Pubmed ID17803354
Accession Number(s)essv4233205
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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