A curated catalogue of human genomic structural variation




Variant Details

Variant: essv3582947



Internal ID7054329
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:240536566..240536566hg38UCSC Ensembl
chr1:240699866..240699866hg19UCSC Ensembl
chr1:238766489..238766489hg18UCSC Ensembl
Cytoband1q43
Allele length
AssemblyAllele length
hg38153
hg19153
hg18153
Variant TypeCNV insertion
Copy Number
Allele StateHeterozygous
Allele OriginNot tested
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv1001491
Supporting Variants
SamplesHuRef
Known GenesGREM2
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)essv3582947
Frequency
Sample Size3
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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