A curated catalogue of human genomic structural variation




Variant Details

Variant: esv1409806



Internal ID12572928
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:238110068..238110481hg38UCSC Ensembl
chr2:239018709..239019122hg19UCSC Ensembl
chr2:238683448..238683861hg18UCSC Ensembl
Cytoband2q37.3
Allele length
AssemblyAllele length
hg38414
hg19414
hg18414
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv3852899
SamplesHuRef
Known GenesESPNL
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferenceLevy_et_al_2007
Pubmed ID17803354
Accession Number(s)esv1409806
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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