A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6921251



Internal ID9684717
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrY:11680861..11725512hg38UCSC Ensembl
OuterchrY:13801567..13846218hg19UCSC Ensembl
CytobandYq11.21
Allele length
AssemblyAllele length
hg3844652
hg1944652
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2740660, esv2740656, esv2740658, esv2740654
Supporting Variants
SamplesSSM017
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)essv6921251
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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