A curated catalogue of human genomic structural variation




Variant Details

Variant: essv3575378



Internal ID6700074
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:114587879..114587882hg38UCSC Ensembl
chr7:114227934..114227937hg19UCSC Ensembl
chr7:114015170..114015173hg18UCSC Ensembl
Cytoband7q31.1
Allele length
AssemblyAllele length
hg3876
hg1976
hg1876
Variant TypeCNV insertion
Copy Number
Allele StateHomozygous
Allele OriginNot tested
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv1007485
Supporting Variants
SamplesHuRef
Known GenesFOXP2
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)essv3575378
Frequency
Sample Size3
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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