A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2739697



Internal ID10323333
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrX:1376701..1377111hg38UCSC Ensembl
OuterchrX:1495594..1496004hg19UCSC Ensembl
CytobandXp22.33
Allele length
AssemblyAllele length
hg38411
hg19411
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6746257, essv6706532, essv6814741, essv6876076, essv6751945, essv6667801, essv6732032, essv6975616
SamplesSSM057, SSM092, SSM029, SSM006, SSM007, SSM077, SSM055, SSM030
Known GenesIL3RA
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)esv2739697
Frequency
Sample Size96
Observed Gain0
Observed Loss8
Observed Complex0
Frequencyn/a


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