A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2740694



Internal ID10324330
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrY:20274819..20275527hg38UCSC Ensembl
OuterchrY:22436705..22437413hg19UCSC Ensembl
CytobandYq11.223
Allele length
AssemblyAllele length
hg38709
hg19709
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6807100, essv6895508, essv6729259, essv6780440, essv6713877, essv6678802, essv6967364, essv6947074, essv6885723, essv6874383, essv6871432, essv6674707, essv6921259, essv6839588, essv6901335
SamplesSSM100, SSM083, SSM027, SSM046, SSM074, SSM042, SSM090, SSM017, SSM032, SSM003, SSM031, SSM067, SSM091, SSM095, SSM098
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)esv2740694
Frequency
Sample Size96
Observed Gain0
Observed Loss15
Observed Complex0
Frequencyn/a


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