A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2734739



Internal ID9969069
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr10:27823852..27824157hg38UCSC Ensembl
Outerchr10:28112781..28113086hg19UCSC Ensembl
Cytoband10p12.1
Allele length
AssemblyAllele length
hg38306
hg19306
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6882079, essv6698525, essv6819295, essv6695196, essv6688025, essv6720370, essv6931482, essv6791514, essv6866731, essv6944544, essv6927658
SamplesSSM038, SSM023, SSM089, SSM019, SSM035, SSM094, SSM044, SSM020, SSM078, SSM037, SSM070
Known GenesARMC4
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)esv2734739
Frequency
Sample Size96
Observed Gain0
Observed Loss11
Observed Complex0
Frequencyn/a


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