A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6734688



Internal ID9799084
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrX:48208684..48238524hg38UCSC Ensembl
OuterchrX:48068119..48097959hg19UCSC Ensembl
CytobandXp11.23
Allele length
AssemblyAllele length
hg3829841
hg1929841
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2740147, esv2740146, esv2740145, esv2740148
Supporting Variants
SamplesSSM049
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)essv6734688
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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