A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6957912



Internal ID9719807
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrX:101423026..101425600hg38UCSC Ensembl
OuterchrX:100678014..100680588hg19UCSC Ensembl
CytobandXq22.1
Allele length
AssemblyAllele length
hg382575
hg192575
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2740356
Supporting Variants
SamplesSSM026
Known GenesARMCX4
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)essv6957912
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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