A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6911855



Internal ID9675793
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrX:86282753..86283123hg38UCSC Ensembl
OuterchrX:85537756..85538126hg19UCSC Ensembl
CytobandXq21.2
Allele length
AssemblyAllele length
hg38371
hg19371
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2740276, esv2740278
Supporting Variants
SamplesSSM015
Known GenesDACH2
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)essv6911855
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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