A curated catalogue of human genomic structural variation




Variant Details

Variant: essv4137069



Internal ID11419608
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:64204061..64204061hg38UCSC Ensembl
chr12:64597841..64597841hg19UCSC Ensembl
chr12:62884108..62884108hg18UCSC Ensembl
Cytoband12q14.2
Allele length
AssemblyAllele length
hg3885
hg1985
hg1885
Variant TypeCNV insertion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv1536875
Supporting Variants
SamplesHuRef
Known GenesC12orf66
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferenceLevy_et_al_2007
Pubmed ID17803354
Accession Number(s)essv4137069
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer