A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2736351



Internal ID9970683
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr10:46295144..46295843hg38UCSC Ensembl
Outerchr10:47666380..47667079hg19UCSC Ensembl
Cytoband10q11.22
Allele length
AssemblyAllele length
hg38700
hg19700
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6856706, essv6684819, essv6695214, essv6919831, essv6908545, essv6709240, essv6834613, essv6731799, essv6976571, essv6935781, essv6795708, essv6752338, essv6896331, essv6927668, essv6900400, essv6850684, essv6884878, essv6958733, essv6740794, essv6887764
SamplesSSM082, SSM086, SSM071, SSM057, SSM041, SSM012, SSM100, SSM017, SSM029, SSM095, SSM047, SSM021, SSM037, SSM034, SSM087, SSM019, SSM096, SSM052, SSM026, SSM014
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)esv2736351
Frequency
Sample Size96
Observed Gain0
Observed Loss20
Observed Complex0
Frequencyn/a


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