A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6909547



Internal ID10017945
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr17:78115728..78115824hg38UCSC Ensembl
Outerchr17:76111809..76111905hg19UCSC Ensembl
Cytoband17q25.3
Allele length
AssemblyAllele length
hg3897
hg1997
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2716302, esv2716304, esv2716303, esv2716301
Supporting Variants
SamplesSSM014
Known GenesTMC6
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)essv6909547
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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