A curated catalogue of human genomic structural variation




Variant Details

Variant: esv1292949



Internal ID12109385
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:216011974..216012146hg38UCSC Ensembl
chr1:216185316..216185488hg19UCSC Ensembl
chr1:214251939..214252111hg18UCSC Ensembl
Cytoband1q41
Allele length
AssemblyAllele length
hg38173
hg19173
hg18173
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv4232581
SamplesHuRef
Known GenesUSH2A
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferenceLevy_et_al_2007
Pubmed ID17803354
Accession Number(s)esv1292949
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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