A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2740705



Internal ID10324341
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrY:26667073..26670801hg38UCSC Ensembl
OuterchrY:28813220..28816948hg19UCSC Ensembl
CytobandYq12
Allele length
AssemblyAllele length
hg383729
hg193729
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1338e201
Supporting Variantsessv6880180, essv6898327, essv6883021, essv6674715, essv6888740, essv6832234, essv6763972, essv6828663, essv6696630, essv6812905, essv6835811
SamplesSSM093, SSM096, SSM062, SSM094, SSM031, SSM081, SSM082, SSM080, SSM037, SSM076, SSM099
Known Genes
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)esv2740705
Frequency
Sample Size96
Observed Gain0
Observed Loss11
Observed Complex0
Frequencyn/a


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