A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6903597



Internal ID9985911
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrX:11707251..11713278hg38UCSC Ensembl
OuterchrX:11725371..11731398hg19UCSC Ensembl
CytobandXp22.2
Allele length
AssemblyAllele length
hg386028
hg196028
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2739964
Supporting Variants
SamplesSSM002
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)essv6903597
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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