A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2740537



Internal ID10324173
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrX:141906106..141906394hg38UCSC Ensembl
OuterchrX:140993892..140994180hg19UCSC Ensembl
CytobandXq27.2
Allele length
AssemblyAllele length
hg38289
hg19289
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6727644, essv6677079
SamplesSSM046, SSM032
Known GenesMAGEC1
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)esv2740537
Frequency
Sample Size96
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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