A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6782726



Internal ID10187996
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrX:16409526..16410083hg38UCSC Ensembl
OuterchrX:16427649..16428206hg19UCSC Ensembl
CytobandXp22.2
Allele length
AssemblyAllele length
hg38558
hg19558
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2739988
Supporting Variants
SamplesSSM068
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)essv6782726
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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