A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2744633



Internal ID9978917
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr11:65839150..65839550hg38UCSC Ensembl
Outerchr11:65606621..65607021hg19UCSC Ensembl
Cytoband11q13.1
Allele length
AssemblyAllele length
hg38401
hg19401
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6803411, essv6850997, essv6709402, essv6770909, essv6834031, essv6876562, essv6771953, essv6752485, essv6795918, essv6931719, essv6834783, essv6737499, essv6970307, essv6737822, essv6857027
SamplesSSM008, SSM071, SSM065, SSM087, SSM073, SSM050, SSM041, SSM057, SSM092, SSM086, SSM082, SSM020, SSM007, SSM010, SSM004
Known GenesSNX32
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)esv2744633
Frequency
Sample Size96
Observed Gain0
Observed Loss15
Observed Complex0
Frequencyn/a


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