A curated catalogue of human genomic structural variation




Variant Details

Variant: essv3582709



Internal ID7054091
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:32531416..32531425hg38UCSC Ensembl
chr7:32571028..32571037hg19UCSC Ensembl
chr7:32537553..32537562hg18UCSC Ensembl
Cytoband7p14.3
Allele length
AssemblyAllele length
hg3854
hg1954
hg1854
Variant TypeCNV insertion
Copy Number
Allele StateHomozygous
Allele OriginNot tested
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv996889
Supporting Variants
SamplesHuRef
Known GenesAVL9
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)essv3582709
Frequency
Sample Size3
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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