A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2736363



Internal ID9970695
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr10:46295435..46295611hg38UCSC Ensembl
Outerchr10:47666671..47666847hg19UCSC Ensembl
Cytoband10q11.22
Allele length
AssemblyAllele length
hg38177
hg19177
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6850684, essv6884878, essv6927668, essv6900400, essv6887764, essv6795708, essv6684819, essv6740794, essv6908545, essv6709240, essv6731799, essv6834613, essv6958733, essv6856706, essv6695214, essv6976571
SamplesSSM100, SSM071, SSM087, SSM041, SSM047, SSM029, SSM096, SSM026, SSM019, SSM014, SSM086, SSM082, SSM037, SSM095, SSM034, SSM052
Known GenesANTXRL
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)esv2736363
Frequency
Sample Size96
Observed Gain0
Observed Loss16
Observed Complex0
Frequencyn/a


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