A curated catalogue of human genomic structural variation




Variant Details

Variant: esv1554693



Internal ID12371128
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:24277455..24277455hg38UCSC Ensembl
chr12:24430389..24430389hg19UCSC Ensembl
chr12:24321656..24321656hg18UCSC Ensembl
Cytoband12p12.1
Allele length
AssemblyAllele length
hg3866
hg1966
hg1866
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv4115142
SamplesHuRef
Known GenesSOX5
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferenceLevy_et_al_2007
Pubmed ID17803354
Accession Number(s)esv1554693
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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