A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6930960



Internal ID10040366
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrX:1637106..1641875hg38UCSC Ensembl
OuterchrX:1755999..1760768hg19UCSC Ensembl
CytobandXp22.33
Allele length
AssemblyAllele length
hg384770
hg194770
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2739763, esv2739755, esv2739758, esv2739760
Supporting Variants
SamplesSSM020
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)essv6930960
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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