A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2730282



Internal ID9964598
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:68809711..68810442hg38UCSC Ensembl
Outerchr5:68105538..68106269hg19UCSC Ensembl
Cytoband5q13.1
Allele length
AssemblyAllele length
hg38732
hg19732
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6702254, essv6817921, essv6865325, essv6670782, essv6854899, essv6764852, essv6848771, essv6963354, essv6884026, essv6759845, essv6956637, essv6719206, essv6974377
SamplesSSM027, SSM087, SSM061, SSM029, SSM026, SSM089, SSM031, SSM044, SSM086, SSM006, SSM078, SSM095, SSM063
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)esv2730282
Frequency
Sample Size96
Observed Gain0
Observed Loss13
Observed Complex0
Frequencyn/a


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