A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6701572



Internal ID10115671
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrX:1636943..1641324hg38UCSC Ensembl
OuterchrX:1755836..1760217hg19UCSC Ensembl
CytobandXp22.33
Allele length
AssemblyAllele length
hg384382
hg194382
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2739755, esv2739758, esv2739760
Supporting Variants
SamplesSSM039
Known GenesASMT
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)essv6701572
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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