A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2740485



Internal ID10324121
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrX:132904810..132907520hg38UCSC Ensembl
OuterchrX:132038838..132041548hg19UCSC Ensembl
CytobandXq26.2
Allele length
AssemblyAllele length
hg382711
hg192711
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6890661
SamplesSSM097
Known GenesHS6ST2
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)esv2740485
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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