A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2739892



Internal ID10323528
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrX:2845081..2845173hg38UCSC Ensembl
OuterchrX:2763122..2763214hg19UCSC Ensembl
CytobandXp22.33
Allele length
AssemblyAllele length
hg3893
hg1993
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6866179, essv6818766
SamplesSSM089, SSM078
Known GenesGYG2
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)esv2739892
Frequency
Sample Size96
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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