A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2739700



Internal ID10323336
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrX:1402638..1402689hg38UCSC Ensembl
OuterchrX:1521531..1521582hg19UCSC Ensembl
CytobandXp22.33
Allele length
AssemblyAllele length
hg3852
hg1952
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6957787
SamplesSSM026
Known GenesASMTL-AS1
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)esv2739700
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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