A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6818766



Internal ID10218494
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrX:2845081..2845173hg38UCSC Ensembl
OuterchrX:2763122..2763214hg19UCSC Ensembl
CytobandXp22.33
Allele length
AssemblyAllele length
hg3893
hg1993
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2739891, esv2739883, esv2739892
Supporting Variants
SamplesSSM078
Known GenesGYG2
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)essv6818766
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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