A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6960463



Internal ID10062758
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr17:57649295..57649417hg38UCSC Ensembl
Outerchr17:55726656..55726778hg19UCSC Ensembl
Cytoband17q22
Allele length
AssemblyAllele length
hg38123
hg19123
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2716072
Supporting Variants
SamplesSSM026
Known GenesMSI2
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)essv6960463
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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