A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2737462



Internal ID9971801
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr10:59681444..59681826hg38UCSC Ensembl
Outerchr10:61441202..61441584hg19UCSC Ensembl
Cytoband10q21.2
Allele length
AssemblyAllele length
hg38383
hg19383
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6940008, essv6845715, essv6906551, essv6866762, essv6876434, essv6870506, essv6912293, essv6672671, essv6720393, essv6775433, essv6783249, essv6709251, essv6915870, essv6924017, essv6970472, essv6838335
SamplesSSM083, SSM002, SSM041, SSM028, SSM092, SSM090, SSM018, SSM089, SSM031, SSM044, SSM066, SSM085, SSM068, SSM015, SSM016, SSM022
Known GenesSLC16A9
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)esv2737462
Frequency
Sample Size96
Observed Gain0
Observed Loss16
Observed Complex0
Frequencyn/a


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