A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2716191



Internal ID9950479
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr17:73192485..73193344hg38UCSC Ensembl
Outerchr17:71188624..71189483hg19UCSC Ensembl
Cytoband17q25.1
Allele length
AssemblyAllele length
hg38860
hg19860
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6772803, essv6741651, essv6706864, essv6735626, essv6898152, essv6717541, essv6954022, essv6743832, essv6750148, essv6778410, essv6874189, essv6960483, essv6820504, essv6668569, essv6784331, essv6920975, essv6780176, essv6766173, essv6905578, essv6744498, essv6696330, essv6858296, essv6811698, essv6665884, essv6882839, essv6738386, essv6852323, essv6912907, essv6753067, essv6913344, essv6949846, essv6769059, essv6835567, essv6763708, essv6776386
SamplesSSM008, SSM024, SSM064, SSM065, SSM087, SSM013, SSM009, SSM050, SSM002, SSM057, SSM029, SSM026, SSM017, SSM094, SSM067, SSM001, SSM086, SSM066, SSM068, SSM040, SSM082, SSM007, SSM015, SSM078, SSM053, SSM037, SSM091, SSM025, SSM099, SSM043, SSM052, SSM049, SSM056, SSM030, SSM063
Known GenesCOG1
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)esv2716191
Frequency
Sample Size96
Observed Gain0
Observed Loss35
Observed Complex0
Frequencyn/a


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