A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6964480



Internal ID10071065
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrX:1294017..1294072hg38UCSC Ensembl
OuterchrX:1412910..1412965hg19UCSC Ensembl
CytobandXp22.33
Allele length
AssemblyAllele length
hg3856
hg1956
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2739657, esv2739658, esv2739659
Supporting Variants
SamplesSSM027
Known GenesCSF2RA
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)essv6964480
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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