A curated catalogue of human genomic structural variation




Variant Details

Variant: esv1170628



Internal ID11987065
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:1122523..1122523hg38UCSC Ensembl
chr12:1231689..1231689hg19UCSC Ensembl
chr12:1101950..1101950hg18UCSC Ensembl
Cytoband12p13.33
Allele length
AssemblyAllele length
hg38368
hg19368
hg18368
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv4342231
SamplesHuRef
Known GenesERC1
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferenceLevy_et_al_2007
Pubmed ID17803354
Accession Number(s)esv1170628
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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