A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6795193



Internal ID10200901
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrX:71903385..71903674hg38UCSC Ensembl
OuterchrX:71123235..71123524hg19UCSC Ensembl
CytobandXq13.1
Allele length
AssemblyAllele length
hg38290
hg19290
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2740218
Supporting Variants
SamplesSSM071
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)essv6795193
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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