A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6677125



Internal ID10091131
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:2055189..2055277hg38UCSC Ensembl
Outerchr8:2003307..2003395hg19UCSC Ensembl
Cytoband8p23.3
Allele length
AssemblyAllele length
hg3889
hg1989
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2736368, esv2736371
Supporting Variants
SamplesSSM032
Known GenesMYOM2
MethodSequencing
AnalysisBreakdancer:4 times standard deviation,VariationHunter:4 times standard deviation and at least 3 supportting reads
PlatformIllumina HiSeq 2000
Comments
ReferenceWong_et_al_2012b
Pubmed ID23290073
Accession Number(s)essv6677125
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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