A curated catalogue of human genomic structural variation




Variant Details

Variant: esv1269016



Internal ID12432139
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:210465991..210466111hg38UCSC Ensembl
chr1:210639335..210639455hg19UCSC Ensembl
chr1:208705958..208706078hg18UCSC Ensembl
Cytoband1q32.2
Allele length
AssemblyAllele length
hg38121
hg19121
hg18121
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv3777678
SamplesHuRef
Known GenesHHAT
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferenceLevy_et_al_2007
Pubmed ID17803354
Accession Number(s)esv1269016
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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