A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6822864



Internal ID10224060
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrX:1368662..1426130hg38UCSC Ensembl
OuterchrX:1487555..1545023hg19UCSC Ensembl
CytobandXp22.33
Allele length
AssemblyAllele length
hg3857469
hg1957469
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2739688, esv2739690, esv2739686
Supporting Variants
SamplesSSM079
Known GenesASMTL, ASMTL-AS1, IL3RA, SLC25A6
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)essv6822864
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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