A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2739705



Internal ID9974046
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrX:1410037..1410306hg38UCSC Ensembl
OuterchrX:1528930..1529199hg19UCSC Ensembl
CytobandXp22.33
Allele length
AssemblyAllele length
hg38270
hg19270
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6859131
SamplesSSM011
Known GenesASMTL, ASMTL-AS1
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)esv2739705
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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