A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6932795



Internal ID9641472
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrX:47148446..47149099hg38UCSC Ensembl
OuterchrX:47007845..47008498hg19UCSC Ensembl
CytobandXp11.23
Allele length
AssemblyAllele length
hg38654
hg19654
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2740135
Supporting Variants
SamplesSSM003
Known GenesRBM10
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)essv6932795
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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