A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6943974



Internal ID10052558
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrX:1451137..1451265hg38UCSC Ensembl
OuterchrX:1570030..1570158hg19UCSC Ensembl
CytobandXp22.33
Allele length
AssemblyAllele length
hg38129
hg19129
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2739719, esv2739720
Supporting Variants
SamplesSSM023
Known GenesASMTL
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)essv6943974
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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