A curated catalogue of human genomic structural variation




Variant Details

Variant: essv4320928



Internal ID11256780
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:124439271..124439271hg38UCSC Ensembl
chr12:124923817..124923817hg19UCSC Ensembl
chr12:123489770..123489770hg18UCSC Ensembl
Cytoband12q24.31
Allele length
AssemblyAllele length
hg3898
hg1998
hg1898
Variant TypeCNV insertion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv1669172
Supporting Variants
SamplesHuRef
Known GenesNCOR2
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferenceLevy_et_al_2007
Pubmed ID17803354
Accession Number(s)essv4320928
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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