A curated catalogue of human genomic structural variation




Variant Details

Variant: esv1065323



Internal ID11881762
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:6571905..6572370hg38UCSC Ensembl
chr12:6681071..6681536hg19UCSC Ensembl
chr12:6551332..6551797hg18UCSC Ensembl
Cytoband12p13.31
Allele length
AssemblyAllele length
hg38466
hg19466
hg18466
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv3960931
SamplesHuRef
Known GenesCHD4
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferenceLevy_et_al_2007
Pubmed ID17803354
Accession Number(s)esv1065323
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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