A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2739957



Internal ID9974299
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrX:9791785..9792488hg38UCSC Ensembl
OuterchrX:9759825..9760528hg19UCSC Ensembl
CytobandXp22.2
Allele length
AssemblyAllele length
hg38704
hg19704
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6734677, essv6855934, essv6698229, essv6957826, essv6892077, essv6743480, essv6749100, essv6975664
SamplesSSM087, SSM038, SSM029, SSM026, SSM053, SSM049, SSM056, SSM012
Known GenesSHROOM2
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)esv2739957
Frequency
Sample Size96
Observed Gain0
Observed Loss8
Observed Complex0
Frequencyn/a


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