A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6937227



Internal ID9696005
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrY:11722876..11723766hg38UCSC Ensembl
OuterchrY:13843582..13844472hg19UCSC Ensembl
CytobandYq11.21
Allele length
AssemblyAllele length
hg38891
hg19891
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2740666, esv2740660, esv2740656, esv2740644, esv2740658, esv2740654
Supporting Variants
SamplesSSM021
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)essv6937227
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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