A curated catalogue of human genomic structural variation




Variant Details

Variant: essv4032789



Internal ID11382399
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:1122343..1122343hg38UCSC Ensembl
chr12:1231509..1231509hg19UCSC Ensembl
chr12:1101770..1101770hg18UCSC Ensembl
Cytoband12p13.33
Allele length
AssemblyAllele length
hg38344
hg19344
hg18344
Variant TypeCNV insertion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv1676497
Supporting Variants
SamplesHuRef
Known GenesERC1
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferenceLevy_et_al_2007
Pubmed ID17803354
Accession Number(s)essv4032789
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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