A curated catalogue of human genomic structural variation




Variant Details

Variant: esv1702045



Internal ID12518478
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:237543784..237543922hg38UCSC Ensembl
chr2:238452427..238452565hg19UCSC Ensembl
chr2:238117166..238117304hg18UCSC Ensembl
Cytoband2q37.3
Allele length
AssemblyAllele length
hg38139
hg19139
hg18139
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv4207906
SamplesHuRef
Known GenesMLPH
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferenceLevy_et_al_2007
Pubmed ID17803354
Accession Number(s)esv1702045
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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