A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2737763



Internal ID9972102
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:141252223..141253183hg38UCSC Ensembl
Outerchr8:142262322..142263282hg19UCSC Ensembl
Cytoband8q24.3
Allele length
AssemblyAllele length
hg38961
hg19961
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6845531, essv6838095, essv6677269, essv6683832, essv6771526, essv6850308, essv6799628, essv6894210, essv6976114, essv6681074, essv6672236, essv6958278
SamplesSSM083, SSM065, SSM029, SSM026, SSM032, SSM031, SSM086, SSM033, SSM085, SSM072, SSM005, SSM012
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)esv2737763
Frequency
Sample Size96
Observed Gain0
Observed Loss12
Observed Complex0
Frequencyn/a


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