A curated catalogue of human genomic structural variation




Variant Details

Variant: essv3849416



Internal ID11565769
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 StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv1691407
Supporting Variants
SamplesHuRef
Known GenesLRMP
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferenceLevy_et_al_2007
Pubmed ID17803354
Accession Number(s)essv3849416
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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