A curated catalogue of human genomic structural variation




Variant Details

Variant: esv1542709



Internal ID12705830
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:179557515..179557601hg38UCSC Ensembl
chr2:180422242..180422328hg19UCSC Ensembl
chr2:180130487..180130573hg18UCSC Ensembl
Cytoband2q31.2
Allele length
AssemblyAllele length
hg3887
hg1987
hg1887
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv3908838
SamplesHuRef
Known GenesZNF385B
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferenceLevy_et_al_2007
Pubmed ID17803354
Accession Number(s)esv1542709
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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