A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2739744



Internal ID10323380
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrX:1608653..1609017hg38UCSC Ensembl
OuterchrX:1727546..1727910hg19UCSC Ensembl
CytobandXp22.33
Allele length
AssemblyAllele length
hg38365
hg19365
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6923523, essv6677024, essv6791012, essv6671824
SamplesSSM018, SSM032, SSM031, SSM070
Known GenesASMT
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)esv2739744
Frequency
Sample Size96
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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