A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2729709



Internal ID9964024
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:7882857..7884097hg38UCSC Ensembl
Outerchr5:7882970..7884210hg19UCSC Ensembl
Cytoband5p15.31
Allele length
AssemblyAllele length
hg381241
hg191241
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6757207, essv6754292, essv6734175, essv6759801, essv6956546, essv6742910, essv6670688, essv6751368, essv6667395, essv6934424, essv6911055
SamplesSSM059, SSM057, SSM058, SSM021, SSM061, SSM026, SSM031, SSM015, SSM053, SSM049, SSM030
Known GenesMTRR
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)esv2729709
Frequency
Sample Size96
Observed Gain0
Observed Loss11
Observed Complex0
Frequencyn/a


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