A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2716579



Internal ID10300215
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr17:82981880..82982336hg38UCSC Ensembl
Outerchr17:80939756..80940212hg19UCSC Ensembl
Cytoband17q25.3
Allele length
AssemblyAllele length
hg38457
hg19457
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv443e201
Supporting Variantsessv6905612, essv6801037, essv6674366, essv6682289, essv6776421, essv6685679, essv6696370, essv6721425, essv6901993, essv6828441, essv6839385, essv6960555, essv6780214, essv6796818, essv6772840, essv6729049, essv6954056
SamplesSSM083, SSM071, SSM046, SSM065, SSM013, SSM026, SSM031, SSM067, SSM044, SSM033, SSM066, SSM072, SSM080, SSM037, SSM025, SSM034, SSM012
Known GenesB3GNTL1
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)esv2716579
Frequency
Sample Size96
Observed Gain0
Observed Loss17
Observed Complex0
Frequencyn/a


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