A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6921270



Internal ID10031419
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrY:26646255..26670324hg38UCSC Ensembl
OuterchrY:28792402..28816471hg19UCSC Ensembl
CytobandYq11.23
Allele length
AssemblyAllele length
hg3824070
hg1924070
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2740702
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)essv6921270
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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