A curated catalogue of human genomic structural variation




Variant Details

Variant: essv3860135



Internal ID11555050
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:1052003..1052003hg38UCSC Ensembl
chr12:1161169..1161169hg19UCSC Ensembl
chr12:1031430..1031430hg18UCSC Ensembl
Cytoband12p13.33
Allele length
AssemblyAllele length
hg3888
hg1988
hg1888
Variant TypeCNV insertion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv1611548
Supporting Variants
SamplesHuRef
Known GenesERC1
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferenceLevy_et_al_2007
Pubmed ID17803354
Accession Number(s)essv3860135
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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