A curated catalogue of human genomic structural variation




Variant Details

Variant: essv3783170



Internal ID11978701
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:64783853..64783853hg38UCSC Ensembl
chr12:65177633..65177633hg19UCSC Ensembl
chr12:63463900..63463900hg18UCSC Ensembl
Cytoband12q14.3
Allele length
AssemblyAllele length
hg38188
hg19188
hg18188
Variant TypeCNV insertion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv1020820
Supporting Variants
SamplesHuRef
Known Genes
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferenceLevy_et_al_2007
Pubmed ID17803354
Accession Number(s)essv3783170
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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