A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6970172



Internal ID9728327
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:141713623..141714002hg38UCSC Ensembl
Outerchr8:142723723..142724158hg19UCSC Ensembl
Cytoband8q24.3
Allele length
AssemblyAllele length
hg38380
hg19436
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2737809, esv2737756
Supporting Variants
SamplesSSM028
Known Genes
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)essv6970172
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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