A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6749162



Internal ID10158551
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrX:152872458..152872969hg38UCSC Ensembl
OuterchrX:152041002..152041513hg19UCSC Ensembl
CytobandXq28
Allele length
AssemblyAllele length
hg38512
hg19512
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2740621, esv2740620
Supporting Variants
SamplesSSM056
Known Genes
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)essv6749162
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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