A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2716576



Internal ID10300212
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr17:82976645..82976932hg38UCSC Ensembl
Outerchr17:80934521..80934808hg19UCSC Ensembl
Cytoband17q25.3
Allele length
AssemblyAllele length
hg38288
hg19288
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6729048, essv6703239, essv6696369, essv6945118, essv6945820, essv6895322, essv6765709, essv6949882, essv6888589, essv6809942, essv6811988, essv6678573, essv6824372, essv6967020, essv6868074, essv6832034, essv6828440
SamplesSSM027, SSM024, SSM075, SSM046, SSM079, SSM039, SSM009, SSM023, SSM096, SSM089, SSM032, SSM003, SSM001, SSM081, SSM080, SSM037, SSM098
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)esv2716576
Frequency
Sample Size96
Observed Gain0
Observed Loss17
Observed Complex0
Frequencyn/a


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