A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2715876



Internal ID9950163
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr17:36098855..36206226hg38UCSC Ensembl
Outerchr17:34426249..34533626hg19UCSC Ensembl
Cytoband17q12
Allele length
AssemblyAllele length
hg38107372
hg19107378
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6809891, essv6824302, essv6678506, essv6715009, essv6761441, essv6758664, essv6909502, essv6874158, essv6753032, essv6778021, essv6674264
SamplesSSM006, SSM091, SSM061, SSM031, SSM057, SSM032, SSM079, SSM075, SSM014, SSM008, SSM059
Known GenesCCL3L1, CCL3L3, CCL4, TBC1D3B
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)esv2715876
Frequency
Sample Size96
Observed Gain0
Observed Loss11
Observed Complex0
Frequencyn/a


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