A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2739767



Internal ID10323403
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrX:1641777..1642307hg38UCSC Ensembl
OuterchrX:1760670..1761200hg19UCSC Ensembl
CytobandXp22.33
Allele length
AssemblyAllele length
hg38531
hg19531
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6919360
SamplesSSM017
Known GenesASMT
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)esv2739767
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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