A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6808804



Internal ID10210329
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrX:75379906..75380045hg38UCSC Ensembl
OuterchrX:74599741..74599880hg19UCSC Ensembl
CytobandXq13.3
Allele length
AssemblyAllele length
hg38140
hg19140
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2740234, esv2740235, esv2740236
Supporting Variants
SamplesSSM075
Known GenesZDHHC15
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)essv6808804
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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