A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6838095



Internal ID9891270
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:141252573..141252890hg38UCSC Ensembl
Outerchr8:142262672..142262989hg19UCSC Ensembl
Cytoband8q24.3
Allele length
AssemblyAllele length
hg38318
hg19318
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2737763, esv2737756, esv2737765, esv2737767
Supporting Variants
SamplesSSM083
Known GenesSLC45A4
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)essv6838095
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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