A curated catalogue of human genomic structural variation




Variant Details

Variant: essv3568192



Internal ID6692888
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 StateHomozygous
Allele OriginNot tested
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv1000409
Supporting Variants
SamplesHuRef
Known GenesMAP3K1
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)essv3568192
Frequency
Sample Size3
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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