A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2739741



Internal ID10323377
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrX:1596508..1597081hg38UCSC Ensembl
OuterchrX:1715401..1715974hg19UCSC Ensembl
CytobandXp22.33
Allele length
AssemblyAllele length
hg38574
hg19574
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6712305, essv6855901, essv6975625, essv6943976, essv6740372, essv6935228
SamplesSSM087, SSM042, SSM023, SSM021, SSM029, SSM052
Known GenesAKAP17A, ASMT
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)esv2739741
Frequency
Sample Size96
Observed Gain0
Observed Loss6
Observed Complex0
Frequencyn/a


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