A curated catalogue of human genomic structural variation




Variant Details

Variant: essv4174765



Internal ID11110618
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:124439349..124439349hg38UCSC Ensembl
chr12:124923895..124923895hg19UCSC Ensembl
chr12:123489848..123489848hg18UCSC Ensembl
Cytoband12q24.31
Allele length
AssemblyAllele length
hg3870
hg1970
hg1870
Variant TypeCNV insertion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv1118928
Supporting Variants
SamplesHuRef
Known GenesNCOR2
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferenceLevy_et_al_2007
Pubmed ID17803354
Accession Number(s)essv4174765
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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