A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6680998



Internal ID9750510
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:39150675..39151193hg38UCSC Ensembl
Outerchr8:39008194..39008712hg19UCSC Ensembl
Cytoband8p11.22
Allele length
AssemblyAllele length
hg38519
hg19519
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2736899, esv2736898
Supporting Variants
SamplesSSM033
Known GenesADAM32
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)essv6680998
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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