A curated catalogue of human genomic structural variation




Variant Details

Variant: essv3711749



Internal ID11703435
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:1122645..1122645hg38UCSC Ensembl
chr12:1231811..1231811hg19UCSC Ensembl
chr12:1102072..1102072hg18UCSC Ensembl
Cytoband12p13.33
Allele length
AssemblyAllele length
hg38118
hg19118
hg18118
Variant TypeCNV insertion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv1639608
Supporting Variants
SamplesHuRef
Known GenesERC1
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferenceLevy_et_al_2007
Pubmed ID17803354
Accession Number(s)essv3711749
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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