A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6947007



Internal ID9642751
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrY:11680508..11725414hg38UCSC Ensembl
OuterchrY:13801214..13846120hg19UCSC Ensembl
CytobandYq11.21
Allele length
AssemblyAllele length
hg3844907
hg1944907
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2740660, esv2740656, esv2740658, esv2740654
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)essv6947007
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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