A curated catalogue of human genomic structural variation




Variant Details

Variant: esv1675960



Internal ID12839078
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:118094095..118094164hg38UCSC Ensembl
chr2:118851671..118851740hg19UCSC Ensembl
chr2:118568141..118568210hg18UCSC Ensembl
Cytoband2q14.1
Allele length
AssemblyAllele length
hg3870
hg1970
hg1870
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv3661460
SamplesHuRef
Known GenesINSIG2
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferenceLevy_et_al_2007
Pubmed ID17803354
Accession Number(s)esv1675960
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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