A curated catalogue of human genomic structural variation




Variant Details

Variant: esv1257970



Internal ID12074407
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 State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv4052317
SamplesHuRef
Known GenesGALNT9
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferenceLevy_et_al_2007
Pubmed ID17803354
Accession Number(s)esv1257970
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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