A curated catalogue of human genomic structural variation




Variant Details

Variant: esv1691407



Internal ID12507839
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:25077285..25077285hg38UCSC Ensembl
chr12:25230219..25230219hg19UCSC Ensembl
chr12:25121486..25121486hg18UCSC Ensembl
Cytoband12p12.1
Allele length
AssemblyAllele length
hg38118
hg19118
hg18118
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv3849416
SamplesHuRef
Known GenesLRMP
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferenceLevy_et_al_2007
Pubmed ID17803354
Accession Number(s)esv1691407
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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