A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6811700



Internal ID9867984
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrX:72272767..72273230hg38UCSC Ensembl
OuterchrX:71492617..71493080hg19UCSC Ensembl
CytobandXq13.1
Allele length
AssemblyAllele length
hg38464
hg19464
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2740221
Supporting Variants
SamplesSSM076
Known GenesRPS4X
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)essv6811700
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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