A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2715560



Internal ID9949847
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr17:4933453..4934246hg38UCSC Ensembl
Outerchr17:4836748..4837541hg19UCSC Ensembl
Cytoband17p13.2
Allele length
AssemblyAllele length
hg38794
hg19794
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6932576, essv6761416, essv6713573, essv6768993, essv6732801, essv6895232, essv6772738, essv6717461, essv6928480, essv6831928, essv6682190, essv6728934, essv6846437, essv6741593, essv6703123, essv6777722, essv6668524, essv6721330, essv6744448, essv6784257
SamplesSSM008, SSM046, SSM064, SSM065, SSM039, SSM042, SSM047, SSM061, SSM019, SSM044, SSM033, SSM085, SSM068, SSM081, SSM020, SSM053, SSM043, SSM052, SSM098, SSM030
Known GenesGP1BA
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)esv2715560
Frequency
Sample Size96
Observed Gain0
Observed Loss20
Observed Complex0
Frequencyn/a


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