A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6948331



Internal ID9709123
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrX:52858725..52861018hg38UCSC Ensembl
OuterchrX:52887754..52890047hg19UCSC Ensembl
CytobandXp11.22
Allele length
AssemblyAllele length
hg382294
hg192294
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2740174, esv2740170
Supporting Variants
SamplesSSM024
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)essv6948331
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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