A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6734871



Internal ID10145605
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr9:37053920..37100355hg38UCSC Ensembl
Outerchr9:37053917..37100352hg19UCSC Ensembl
Cytoband9p13.2
Allele length
AssemblyAllele length
hg3846436
hg1946436
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2738432
Supporting Variants
SamplesSSM049
Known GenesLOC100506710
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)essv6734871
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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