A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2715805



Internal ID10299441
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr17:30101880..30102311hg38UCSC Ensembl
Outerchr17:28428898..28429329hg19UCSC Ensembl
Cytoband17q11.2
Allele length
AssemblyAllele length
hg38432
hg19432
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6871216, essv6846463
SamplesSSM090, SSM085
Known GenesEFCAB5
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)esv2715805
Frequency
Sample Size96
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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