A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6687694



Internal ID10101609
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrX:85088072..85088186hg38UCSC Ensembl
OuterchrX:84343078..84343192hg19UCSC Ensembl
CytobandXq21.1
Allele length
AssemblyAllele length
hg38115
hg19115
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2740269, esv2740268, esv2740267
Supporting Variants
SamplesSSM035
Known GenesAPOOL
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)essv6687694
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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