A curated catalogue of human genomic structural variation




Variant Details

Variant: esv1526249



Internal ID12342685
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:124373737..124373827hg38UCSC Ensembl
chr12:124858283..124858373hg19UCSC Ensembl
chr12:123424236..123424326hg18UCSC Ensembl
Cytoband12q24.31
Allele length
AssemblyAllele length
hg3891
hg1991
hg1891
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv4188113
SamplesHuRef
Known GenesNCOR2
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferenceLevy_et_al_2007
Pubmed ID17803354
Accession Number(s)esv1526249
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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