A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6948333



Internal ID9709121
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrX:55146237..55159115hg38UCSC Ensembl
OuterchrX:55172670..55185548hg19UCSC Ensembl
CytobandXp11.21
Allele length
AssemblyAllele length
hg3812879
hg1912879
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2740182, esv2740181, esv2740175
Supporting Variants
SamplesSSM024
Known GenesFAM104B
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)essv6948333
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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