A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2716236



Internal ID9950524
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr17:75212287..75212442hg38UCSC Ensembl
Outerchr17:73208382..73208537hg19UCSC Ensembl
Cytoband17q25.1
Allele length
AssemblyAllele length
hg38156
hg19156
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6960491, essv6696334, essv6852332
SamplesSSM086, SSM037, SSM026
Known GenesNUP85
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)esv2716236
Frequency
Sample Size96
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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