A curated catalogue of human genomic structural variation




Variant Details

Variant: essv4304721



Internal ID11587259
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:44670594..44670594hg38UCSC Ensembl
chr12:45064377..45064377hg19UCSC Ensembl
chr12:43350644..43350644hg18UCSC Ensembl
Cytoband12q12
Allele length
AssemblyAllele length
hg38322
hg19322
hg18322
Variant TypeCNV insertion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv1571217
Supporting Variants
SamplesHuRef
Known GenesNELL2
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferenceLevy_et_al_2007
Pubmed ID17803354
Accession Number(s)essv4304721
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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