A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6963752



Internal ID10069461
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:48528217..48528682hg38UCSC Ensembl
Outerchr6:48495953..48496418hg19UCSC Ensembl
Cytoband6p12.3
Allele length
AssemblyAllele length
hg38466
hg19466
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2732047
Supporting Variants
SamplesSSM027
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)essv6963752
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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