A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6826882



Internal ID9880990
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrX:1514313..1514518hg38UCSC Ensembl
OuterchrX:1633206..1633411hg19UCSC Ensembl
CytobandXp22.33
Allele length
AssemblyAllele length
hg38206
hg19206
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2739731
Supporting Variants
SamplesSSM080
Known GenesP2RY8
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)essv6826882
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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