A curated catalogue of human genomic structural variation




Variant Details

Variant: essv4052317



Internal ID11362871
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:132290727..132291102hg38UCSC Ensembl
chr12:132867313..132867688hg19UCSC Ensembl
chr12:131377386..131377761hg18UCSC Ensembl
Cytoband12q24.33
Allele length
AssemblyAllele length
hg38376
hg19376
hg18376
Variant TypeCNV deletion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv1257970
Supporting Variants
SamplesHuRef
Known GenesGALNT9
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferenceLevy_et_al_2007
Pubmed ID17803354
Accession Number(s)essv4052317
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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