A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2715628



Internal ID9949915
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr17:9231483..9231968hg38UCSC Ensembl
Outerchr17:9134800..9135285hg19UCSC Ensembl
Cytoband17p13.1
Allele length
AssemblyAllele length
hg38486
hg19486
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6843137, essv6941048, essv6913266, essv6682194, essv6812682, essv6776324, essv6668528
SamplesSSM084, SSM033, SSM066, SSM015, SSM076, SSM022, SSM030
Known GenesNTN1
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)esv2715628
Frequency
Sample Size96
Observed Gain0
Observed Loss7
Observed Complex0
Frequencyn/a


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