A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6685118



Internal ID9754182
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:69743759..69743879hg38UCSC Ensembl
Outerchr12:70137539..70137659hg19UCSC Ensembl
Cytoband12q15
Allele length
AssemblyAllele length
hg38121
hg19121
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2746020
Supporting Variants
SamplesSSM034
Known GenesRAB3IP
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)essv6685118
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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