A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6765314



Internal ID9825579
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrX:48232286..48233689hg38UCSC Ensembl
OuterchrX:48091721..48093124hg19UCSC Ensembl
CytobandXp11.23
Allele length
AssemblyAllele length
hg381404
hg191404
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2740147, esv2740146, esv2740145, esv2740148, esv2740149
Supporting Variants
SamplesSSM063
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)essv6765314
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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