A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6866315



Internal ID9916479
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:19461968..19462019hg38UCSC Ensembl
Outerchr8:19319479..19319530hg19UCSC Ensembl
Cytoband8p21.3
Allele length
AssemblyAllele length
hg3852
hg1952
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2736721, esv2736724
Supporting Variants
SamplesSSM089
Known GenesCSGALNACT1
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)essv6866315
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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