A curated catalogue of human genomic structural variation




Variant Details

Variant: esv1000409



Internal ID6712553
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:56835289..56835354hg38UCSC Ensembl
chr5:56131116..56131181hg19UCSC Ensembl
chr5:56166873..56166938hg18UCSC Ensembl
Cytoband5q11.2
Allele length
AssemblyAllele length
hg3866
hg1966
hg1866
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv3568192
SamplesHuRef
Known GenesMAP3K1
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)esv1000409
Frequency
Sample Size3
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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