A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2740625



Internal ID10324261
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrX:152941918..153033066hg38UCSC Ensembl
OuterchrX:152110462..152201412hg19UCSC Ensembl
CytobandXq28
Allele length
AssemblyAllele length
hg3891149
hg1990951
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6881818, essv6719997, essv6805862, essv6775081, essv6727655, essv6900117, essv6795245
SamplesSSM100, SSM071, SSM046, SSM074, SSM094, SSM044, SSM066
Known GenesPNMA5, ZNF185
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)esv2740625
Frequency
Sample Size96
Observed Gain0
Observed Loss7
Observed Complex0
Frequencyn/a


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