A curated catalogue of human genomic structural variation




Variant Details

Variant: essv4330532



Internal ID11266384
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:95946577..95949186hg38UCSC Ensembl
chr12:96340355..96342964hg19UCSC Ensembl
chr12:94864486..94867095hg18UCSC Ensembl
Cytoband12q23.1
Allele length
AssemblyAllele length
hg382610
hg192610
hg182610
Variant TypeCNV deletion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv1136533
Supporting Variants
SamplesHuRef
Known GenesAMDHD1
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferenceLevy_et_al_2007
Pubmed ID17803354
Accession Number(s)essv4330532
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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