A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6696601



Internal ID9763343
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrY:11680510..11682338hg38UCSC Ensembl
OuterchrY:13801216..13803044hg19UCSC Ensembl
CytobandYq11.21
Allele length
AssemblyAllele length
hg381829
hg191829
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2740660, esv2740657, esv2740653, esv2740656, esv2740644, esv2740659, esv2740658, esv2740654
Supporting Variants
SamplesSSM037
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)essv6696601
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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