A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6909527



Internal ID10017963
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr17:63501313..63501458hg38UCSC Ensembl
Outerchr17:61578674..61578819hg19UCSC Ensembl
Cytoband17q23.3
Allele length
AssemblyAllele length
hg38146
hg19146
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2716094, esv2716096
Supporting Variants
SamplesSSM014
Known Genes
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)essv6909527
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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