A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2716286



Internal ID10299922
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr17:77674277..77674742hg38UCSC Ensembl
Outerchr17:75670359..75670824hg19UCSC Ensembl
Cytoband17q25.3
Allele length
AssemblyAllele length
hg38466
hg19466
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6839359, essv6832012, essv6778499, essv6925047, essv6710093, essv6941126
SamplesSSM008, SSM083, SSM041, SSM018, SSM081, SSM022
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)esv2716286
Frequency
Sample Size96
Observed Gain0
Observed Loss6
Observed Complex0
Frequencyn/a


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