A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6975758



Internal ID10082288
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrX:120241482..120241586hg38UCSC Ensembl
OuterchrX:119375337..119375441hg19UCSC Ensembl
CytobandXq24
Allele length
AssemblyAllele length
hg38105
hg19105
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2740431, esv2740432
Supporting Variants
SamplesSSM029
Known GenesNKAPP1
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)essv6975758
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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