A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2731134



Internal ID10314770
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:174212903..174213751hg38UCSC Ensembl
Outerchr5:173639906..173640754hg19UCSC Ensembl
Cytoband5q35.2
Allele length
AssemblyAllele length
hg38849
hg19849
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6886986, essv6793765, essv6770663, essv6938863, essv6702765, essv6884111, essv6748640, essv6927029, essv6818046, essv6848921, essv6963509, essv6855039, essv6754415, essv6956785, essv6860662, essv6942261, essv6751484, essv6759276, essv6739860, essv6974558, essv6875584
SamplesSSM008, SSM027, SSM065, SSM087, SSM009, SSM088, SSM057, SSM058, SSM092, SSM029, SSM026, SSM003, SSM001, SSM086, SSM006, SSM078, SSM022, SSM095, SSM052, SSM056, SSM012
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)esv2731134
Frequency
Sample Size96
Observed Gain0
Observed Loss21
Observed Complex0
Frequencyn/a


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