A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6690934



Internal ID9757314
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrX:55081158..55286558hg38UCSC Ensembl
OuterchrX:55107591..55312991hg19UCSC Ensembl
CytobandXp11.21
Allele length
AssemblyAllele length
hg38205401
hg19205401
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2740181, esv2740175
Supporting Variants
SamplesSSM036
Known GenesFAM104B, MTRNR2L10, PAGE2, PAGE3, PAGE5
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)essv6690934
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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