A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2716575



Internal ID10300211
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr17:82976582..82977191hg38UCSC Ensembl
Outerchr17:80934458..80935067hg19UCSC Ensembl
Cytoband17q25.3
Allele length
AssemblyAllele length
hg38610
hg19610
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv442e201
Supporting Variantsessv6766192, essv6729048, essv6703239, essv6696369, essv6763844, essv6945118, essv6945820, essv6761488, essv6960554, essv6744523, essv6913140, essv6895322, essv6765709, essv6949882, essv6888589, essv6809942, essv6758707, essv6811988, essv6678573, essv6824372, essv6967020, essv6868074, essv6832034, essv6828440
SamplesSSM059, SSM027, SSM024, SSM075, SSM046, SSM079, SSM039, SSM009, SSM002, SSM023, SSM061, SSM096, SSM062, SSM026, SSM089, SSM032, SSM003, SSM001, SSM081, SSM053, SSM080, SSM037, SSM098, SSM063
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)esv2716575
Frequency
Sample Size96
Observed Gain0
Observed Loss24
Observed Complex0
Frequencyn/a


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