A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6919403



Internal ID10029740
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrX:71592687..71594971hg38UCSC Ensembl
OuterchrX:70812537..70814821hg19UCSC Ensembl
CytobandXq13.1
Allele length
AssemblyAllele length
hg382285
hg192285
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2740214
Supporting Variants
SamplesSSM017
Known GenesACRC, BCYRN1
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)essv6919403
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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