A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6935449



Internal ID10044237
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:107492409..107494122hg38UCSC Ensembl
Outerchr8:108504637..108506350hg19UCSC Ensembl
Cytoband8q23.1
Allele length
AssemblyAllele length
hg381714
hg191714
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2737413
Supporting Variants
SamplesSSM021
Known GenesANGPT1
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)essv6935449
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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