A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6859120



Internal ID10008689
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrX:1370310..1377128hg38UCSC Ensembl
OuterchrX:1489203..1496021hg19UCSC Ensembl
CytobandXp22.33
Allele length
AssemblyAllele length
hg386819
hg196819
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2739692, esv2739688, esv2739694, esv2739690, esv2739686
Supporting Variants
SamplesSSM011
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)essv6859120
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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