A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6685792



Internal ID9751806
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr20:9523540..9524544hg38UCSC Ensembl
Outerchr20:9504187..9505191hg19UCSC Ensembl
Cytoband20p12.2
Allele length
AssemblyAllele length
hg381005
hg191005
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2722167
Supporting Variants
SamplesSSM034
Known GenesLAMP5
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)essv6685792
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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