A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2739739



Internal ID10323375
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrX:1595142..1595320hg38UCSC Ensembl
OuterchrX:1714035..1714213hg19UCSC Ensembl
CytobandXp22.33
Allele length
AssemblyAllele length
hg38179
hg19179
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6911784
SamplesSSM015
Known GenesAKAP17A
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)esv2739739
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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