A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6957924



Internal ID9719818
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrX:119470517..119470937hg38UCSC Ensembl
OuterchrX:118604480..118604900hg19UCSC Ensembl
CytobandXq24
Allele length
AssemblyAllele length
hg38421
hg19421
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2740429
Supporting Variants
SamplesSSM026
Known GenesSLC25A5
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)essv6957924
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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