A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6946952



Internal ID9642746
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrY:11532299..11537678hg38UCSC Ensembl
OuterchrY:13687975..13693354hg19UCSC Ensembl
CytobandYq11.21
Allele length
AssemblyAllele length
hg385380
hg195380
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2740645, esv2740647, esv2740644, esv2740646
Supporting Variants
SamplesSSM003
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)essv6946952
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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