A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2716069



Internal ID10299705
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr17:57153854..57154561hg38UCSC Ensembl
Outerchr17:55231215..55231922hg19UCSC Ensembl
Cytoband17q22
Allele length
AssemblyAllele length
hg38708
hg19708
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6696315, essv6713629, essv6944685, essv6800990, essv6792593, essv6954005, essv6879988, essv6732860, essv6846489, essv6920963, essv6769048, essv6835556, essv6706852, essv6877202, essv6665861, essv6763042, essv6735618, essv6717529, essv6804002, essv6816049
SamplesSSM064, SSM073, SSM093, SSM042, SSM092, SSM047, SSM029, SSM017, SSM003, SSM001, SSM085, SSM040, SSM072, SSM082, SSM037, SSM077, SSM070, SSM025, SSM043, SSM049
Known Genes
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)esv2716069
Frequency
Sample Size96
Observed Gain0
Observed Loss20
Observed Complex0
Frequencyn/a


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