A curated catalogue of human genomic structural variation




Variant Details

Variant: essv3952660



Internal ID11462526
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:1774925..1775058hg38UCSC Ensembl
chr12:1884091..1884224hg19UCSC Ensembl
chr12:1754352..1754485hg18UCSC Ensembl
Cytoband12p13.33
Allele length
AssemblyAllele length
hg38134
hg19134
hg18134
Variant TypeCNV deletion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv1263717
Supporting Variants
SamplesHuRef
Known GenesADIPOR2
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferenceLevy_et_al_2007
Pubmed ID17803354
Accession Number(s)essv3952660
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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