A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6823646



Internal ID9878077
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:49878108..49879291hg38UCSC Ensembl
Outerchr12:50271891..50273074hg19UCSC Ensembl
Cytoband12q13.12
Allele length
AssemblyAllele length
hg381184
hg191184
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2745867
Supporting Variants
SamplesSSM079
Known GenesFAIM2
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)essv6823646
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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