A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6937172



Internal ID9695945
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr20:51395081..51395717hg38UCSC Ensembl
Outerchr20:50011618..50012254hg19UCSC Ensembl
Cytoband20q13.2
Allele length
AssemblyAllele length
hg38637
hg19637
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2722509
Supporting Variants
SamplesSSM021
Known GenesNFATC2
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)essv6937172
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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