A curated catalogue of human genomic structural variation




Variant Details

Variant: essv3899888



Internal ID11515297
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:132242437..132242977hg38UCSC Ensembl
chr12:132818362..132819037hg19UCSC Ensembl
chr12:131328435..131329110hg18UCSC Ensembl
Cytoband12q24.33
Allele length
AssemblyAllele length
hg38541
hg19676
hg18676
Variant TypeCNV deletion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv1462855
Supporting Variants
SamplesHuRef
Known GenesGALNT9
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferenceLevy_et_al_2007
Pubmed ID17803354
Accession Number(s)essv3899888
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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