A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6687844



Internal ID9994175
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:104076674..104076840hg38UCSC Ensembl
Outerchr12:104470452..104470618hg19UCSC Ensembl
Cytoband12q23.3
Allele length
AssemblyAllele length
hg38167
hg19167
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2746313, esv2746314
Supporting Variants
SamplesSSM005
Known GenesHCFC2
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)essv6687844
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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