A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2740049



Internal ID10323685
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrX:30329638..30330501hg38UCSC Ensembl
OuterchrX:30347755..30348618hg19UCSC Ensembl
CytobandXp21.2
Allele length
AssemblyAllele length
hg38864
hg19864
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6705508, essv6751974, essv6708847, essv6911817, essv6775029, essv6834233, essv6749108, essv6719923, essv6690920, essv6684427, essv6811691, essv6799543, essv6762925, essv6965250
SamplesSSM036, SSM009, SSM041, SSM057, SSM062, SSM044, SSM066, SSM040, SSM082, SSM015, SSM076, SSM034, SSM004, SSM056
Known Genes
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)esv2740049
Frequency
Sample Size96
Observed Gain0
Observed Loss14
Observed Complex0
Frequencyn/a


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