A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2739958



Internal ID10323594
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrX:9791965..9792321hg38UCSC Ensembl
OuterchrX:9760005..9760361hg19UCSC Ensembl
CytobandXp22.2
Allele length
AssemblyAllele length
hg38357
hg19357
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6855934, essv6698229, essv6957826, essv6892077, essv6743480, essv6749100, essv6975664
SamplesSSM087, SSM038, SSM029, SSM026, SSM053, 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)esv2739958
Frequency
Sample Size96
Observed Gain0
Observed Loss7
Observed Complex0
Frequencyn/a


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