A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6838584



Internal ID10238397
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:7827552..7929721hg38UCSC Ensembl
Outerchr12:7980148..8082317hg19UCSC Ensembl
Cytoband12p13.31
Allele length
AssemblyAllele length
hg38102170
hg19102170
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2742237
Supporting Variants
SamplesSSM083
Known GenesSLC2A14, SLC2A3
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)essv6838584
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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