A curated catalogue of human genomic structural variation




Variant Details

Variant: essv3986275



Internal ID11428912
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:57308115..57308632hg38UCSC Ensembl
chr12:57701898..57702415hg19UCSC Ensembl
chr12:55988165..55988682hg18UCSC Ensembl
Cytoband12q13.3
Allele length
AssemblyAllele length
hg38518
hg19518
hg18518
Variant TypeCNV deletion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv1358710
Supporting Variants
SamplesHuRef
Known GenesR3HDM2
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferenceLevy_et_al_2007
Pubmed ID17803354
Accession Number(s)essv3986275
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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