A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6855989



Internal ID9907187
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrX:74596961..74597841hg38UCSC Ensembl
OuterchrX:73816796..73817676hg19UCSC Ensembl
CytobandXq13.2
Allele length
AssemblyAllele length
hg38881
hg19881
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2740232
Supporting Variants
SamplesSSM087
Known GenesRLIM
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)essv6855989
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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