A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2743819



Internal ID10324789
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr10:133111244..133111960hg38UCSC Ensembl
Outerchr10:134924748..134925464hg19UCSC Ensembl
Cytoband10q26.3
Allele length
AssemblyAllele length
hg38717
hg19717
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6827493, essv6677615, essv6891087, essv6887850, essv6731918, essv6712814, essv6891086, essv6976778, essv6965451, essv6823428, essv6724303, essv6953012
SamplesSSM027, SSM045, SSM079, SSM097, SSM042, SSM047, SSM029, SSM096, SSM032, SSM080, SSM025
Known GenesGPR123
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)esv2743819
Frequency
Sample Size96
Observed Gain0
Observed Loss11
Observed Complex0
Frequencyn/a


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